<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1688-9339</journal-id>
<journal-title><![CDATA[Odontoestomatología]]></journal-title>
<abbrev-journal-title><![CDATA[Odontoestomatología]]></abbrev-journal-title>
<issn>1688-9339</issn>
<publisher>
<publisher-name><![CDATA[Facultad de Odontología - Universidad de la República]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-93392021000201306</article-id>
<article-id pub-id-type="doi">10.22592/ode2021n37e306</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mecanismos moleculares de la amelogénesis imperfecta. Una revisión de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4.]]></article-title>
<article-title xml:lang="en"><![CDATA[Molecular mechanisms of amelogenesis imperfecta. A review of the ENAM, AMBN, FAM83H, MMP20, and KLK4 genes]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pescetto]]></surname>
<given-names><![CDATA[Nicolás]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Céspedes]]></surname>
<given-names><![CDATA[Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bologna Molina]]></surname>
<given-names><![CDATA[Ronell]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pereira-Prado]]></surname>
<given-names><![CDATA[Vanesa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de la República Facultad de Odontología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de la República Facultad de Odontología Área de Patología Molecular Estomatológica]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2021</year>
</pub-date>
<volume>23</volume>
<numero>38</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-93392021000201306&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-93392021000201306&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-93392021000201306&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La amelogénesis imperfecta (AI) es un trastorno hereditario que afecta la estructura y apariencia clínica del esmalte dental. Hasta la fecha, se han asociado las mutaciones de 18 genes como la etiología de la AI no sindrómica. El objetivo de este trabajo es actualizar los conocimientos vigentes acerca de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4 causantes de los diferentes tipos de AI.  Metodología:  Se realizó una búsqueda bibliográfica considerando artículos científicos desde el 2003 al 2021 sobre mutaciones en los genes mencionados en los siguientes portales: scielo, Pubmed/MEDLINE, Cochrane y Springer Link.  Resultados:  37 artículos cumplieron los criterios de inclusión y fueron utilizados para esta revisión.  Conclusiones:  Dependiendo del gen implicado, las alteraciones del esmalte pueden mostrar una variedad de características. Los mecanismos biológicos que conducen a la enfermedad son múltiples y variados, sin embargo, muchos de ellos no están del todo claro aún, por lo que se requerirá de más investigaciones para mejorar nuestra comprensión del tema.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A amelogênese imperfeita (AI) é uma doença hereditária que afeta a estrutura e aparência clínica do esmalte dentário. Mutações de 18 genes têm sido associadas como causa do AI. O objetivo deste trabalho é atualizar o conhecimento atual sobre genes ENAM, AMBN, FAM83H, MMP20 e KLK4 que causam os diferentes tipos de IA.  Metodologia:  Foi realizada uma busca bibliográfica considerando artigos científicos de 2003 até 2021 sobre mutações específicas nos genes citados nos seguintes portais: scielo, Pubmed / MEDLINE, Cochrane e Springer Link.  Resultados:  37 artigos atenderam aos critérios de inclusão e foram utilizados para o desenvolvimento desta revisão.  Conclusões:  Dependendo do gene envolvido, as alterações do esmalte podem apresentar uma variedade de características. Os mecanismos biológicos que levam à doença são múltiplos e variados, porém muitos de les ainda não estão totalmente esclarecidos, portanto, mais pesquisas serão necessárias para melhorar nossa compreensão do assunto.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Amelogenesis imperfecta (AI) is an inherited disorder that affects the structure and clinical appearance of tooth enamel. To date, mutations of 18 genes have been associated as the etiology of non-syndromic AI. This study aims to update the current knowledge on the ENAM, AMBN, FAM83H, MMP20, and KLK4 genes that cause the different types of AI.  Methodology:  The literature review included scientific articles from 2003 to 2021 on specific mutations in the genes mentioned above. SciELO, Pubmed/MEDLINE, Cochrane, and Springer Link were the databases selected.  Results:  Thirty-seven articles met the inclusion criteria and were used for this review.  Conclusions:  Enamel alterations can have a variety of characteristics depending on the gene involved. The biological mechanisms that lead to the disease are multiple and varied; however, many of them are not entirely clear yet, so more research is necessary to improve our understanding of the subject.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[amelogénesis imperfecta]]></kwd>
<kwd lng="es"><![CDATA[hipoplasia]]></kwd>
<kwd lng="es"><![CDATA[esmalte]]></kwd>
<kwd lng="pt"><![CDATA[amelogênese imperfeita]]></kwd>
<kwd lng="pt"><![CDATA[hipoplasia]]></kwd>
<kwd lng="pt"><![CDATA[esmalte]]></kwd>
<kwd lng="en"><![CDATA[amelogenesis imperfecta]]></kwd>
<kwd lng="en"><![CDATA[hypoplasia]]></kwd>
<kwd lng="en"><![CDATA[enamel]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sapp]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[P; Eversole L R; Wysocki G.P. Patología oral y maxilofacial contemporánea, 2º edición]]></article-title>
<source><![CDATA[Madrid: Elsevier,]]></source>
<year>2005</year>
<page-range>14-6</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Witkop]]></surname>
<given-names><![CDATA[CJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Jr Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J. Oral]]></article-title>
<source><![CDATA[Pathol]]></source>
<year>1988</year>
<volume>17</volume>
<numero>9-10</numero>
<issue>9-10</issue>
<page-range>547-53</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Crawford]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[J; Aldred M; Bloch-Zupan A Amelogenesis imperfecta. Orphanet J. Rare]]></article-title>
<source><![CDATA[Dis]]></source>
<year>2007</year>
<volume>2</volume>
<page-range>17</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[C; Chun Y H; Al Hazzazzi T; Simmer J.P. Enamel formation and amelogenesis imperfecta]]></article-title>
<source><![CDATA[Cells Tissues Ogans]]></source>
<year>2007</year>
<volume>186</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>78-85</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Aldred]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[J; Crawford P J.M; Savarirayan R. Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral]]></article-title>
<source><![CDATA[Dis]]></source>
<year>2003</year>
<volume>9</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>19-23</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Prasad]]></surname>
<given-names><![CDATA[M.K]]></given-names>
</name>
<name>
<surname><![CDATA[Laouina]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[El Alloussi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Dollfus]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Bloch-Zupan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Amelogenesis imperfecta: 1 family, 2 phenotypes, and 2 mutated genes]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2016</year>
<volume>95</volume>
<numero>13</numero>
<issue>13</issue>
<page-range>1457-63</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[C.E.L]]></given-names>
</name>
<name>
<surname><![CDATA[Poulter]]></surname>
<given-names><![CDATA[J.A]]></given-names>
</name>
<name>
<surname><![CDATA[Antanaviciute]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kirkham]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Brookes]]></surname>
<given-names><![CDATA[S.J]]></given-names>
</name>
<name>
<surname><![CDATA[Inglehearn]]></surname>
<given-names><![CDATA[C.F]]></given-names>
</name>
<name>
<surname><![CDATA[Mighell]]></surname>
<given-names><![CDATA[A.J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Amelogenesis Imperfecta; Genes, Proteins, and Pathways]]></article-title>
<source><![CDATA[Front. Physiol]]></source>
<year>2017</year>
<volume>8</volume>
<numero>435</numero>
<issue>435</issue>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[J.W]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Lin]]></surname>
<given-names><![CDATA[BPL]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Bartlett]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutational analysis of candidate genes in 24 amelogenesis imperfecta families]]></article-title>
<source><![CDATA[Eur. J. Oral. Sci]]></source>
<year>2006</year>
<volume>114</volume>
<numero>^ssuppl1</numero>
<issue>^ssuppl1</issue>
<supplement>suppl1</supplement>
<page-range>3-12</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Simancas-Escorcia]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Natera]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Acosta de Camargo]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genes involved in amelogenesis imperfecta. Part I]]></article-title>
<source><![CDATA[Rev. Fac. Odontol. Univ. Antioq]]></source>
<year>2018</year>
<volume>30</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>105-20</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Jeong]]></surname>
<given-names><![CDATA[TS]]></given-names>
</name>
<name>
<surname><![CDATA[Hwang]]></surname>
<given-names><![CDATA[YH]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[FAM83H mutations cause ADHCAI and alter intracellular protein localization]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2011</year>
<volume>90</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>377-81</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[ZH]]></given-names>
</name>
<name>
<surname><![CDATA[Park]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[MH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta]]></article-title>
<source><![CDATA[Am. J. Hum. Genet]]></source>
<year>2008</year>
<volume>82</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>489-94</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Koruyucu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kasimoglu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Wright]]></surname>
<given-names><![CDATA[JT]]></given-names>
</name>
<name>
<surname><![CDATA[Havel]]></surname>
<given-names><![CDATA[M.W]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ENAM mutations and Digenic Inheritance]]></article-title>
<source><![CDATA[Mol. Genet. Genomic Med]]></source>
<year>2019</year>
<volume>7</volume>
<numero>10</numero>
<issue>10</issue>
</nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Koruyucu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[YJ]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Kasimoglu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[ZH]]></given-names>
</name>
<name>
<surname><![CDATA[Shin]]></surname>
<given-names><![CDATA[TJ]]></given-names>
</name>
<name>
<surname><![CDATA[Hyun]]></surname>
<given-names><![CDATA[HK]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[YJ]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[SH]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hypoplastic AI with highly variable expressivity caused by ENAM mutations]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2018</year>
<volume>97</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>1064-9</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[E; Koruyucu M; Gencay K; Bayram M; Tuna E B; Lee Z.H; Kim J.W. ENAM mutations with Incomplete Penetrance. J. Dent]]></article-title>
<source><![CDATA[Res]]></source>
<year>2014</year>
<volume>93</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>988-92</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Zhao]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Qin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta]]></article-title>
<source><![CDATA[Plos One]]></source>
<year>2015</year>
<volume>10</volume>
<numero>3</numero>
<issue>3</issue>
</nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hart]]></surname>
<given-names><![CDATA[TC]]></given-names>
</name>
<name>
<surname><![CDATA[Hart]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Gorry]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Michalec]]></surname>
<given-names><![CDATA[MD]]></given-names>
</name>
<name>
<surname><![CDATA[Ryu]]></surname>
<given-names><![CDATA[OH]]></given-names>
</name>
<name>
<surname><![CDATA[Uygur]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Ozdemir]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Firatli]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Aren]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Firatli]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects]]></article-title>
<source><![CDATA[J. Med. Genet]]></source>
<year>2003</year>
<volume>40</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>900-6</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Siddiqui]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Jawad]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Enamelin directs crystallite organization at the enamel-dentine junction]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2016</year>
<volume>95</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>580-7</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brookes]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
<name>
<surname><![CDATA[Barron]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[CEL]]></given-names>
</name>
<name>
<surname><![CDATA[Poulter]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Mighell]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Inglehearn]]></surname>
<given-names><![CDATA[CF]]></given-names>
</name>
<name>
<surname><![CDATA[Brown]]></surname>
<given-names><![CDATA[CJ]]></given-names>
</name>
<name>
<surname><![CDATA[Rodd]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Kirkham]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Dixon]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Amelogenesis imperfecta caused by N-Terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress]]></article-title>
<source><![CDATA[Hum. Mol. Genet]]></source>
<year>2017</year>
<volume>26</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>1863-76</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Delsuc]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Gasse]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Sire]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Y Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta]]></article-title>
<source><![CDATA[BMC Evolutionary Biology]]></source>
<year>2015</year>
<volume>15</volume>
<page-range>148</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Poulter]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Murillo]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Brookes]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[CEL]]></given-names>
</name>
<name>
<surname><![CDATA[Parry]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kirkham]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Inglehearn]]></surname>
<given-names><![CDATA[CF]]></given-names>
</name>
<name>
<surname><![CDATA[Mighell]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta]]></article-title>
<source><![CDATA[Hum. Mol. Genet]]></source>
<year>2014</year>
<volume>23</volume>
<numero>20</numero>
<issue>20</issue>
<page-range>5317-24</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fukumoto]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kiba]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Hall]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Iehara]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Nakamura]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Longenecker]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Krebsbach]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[H; Nanci A; Kulkarni A B; Yamada Y. Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts]]></article-title>
<source><![CDATA[J. Cell Biol]]></source>
<year>2004</year>
<volume>167</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>973-83</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Liang]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[C.E]]></given-names>
</name>
<name>
<surname><![CDATA[Richardson]]></surname>
<given-names><![CDATA[A.S]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Lin]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[S.K]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[J.W]]></given-names>
</name>
<name>
<surname><![CDATA[Chun]]></surname>
<given-names><![CDATA[Y.H]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[J.P]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[J.C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[CAMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-laczknockin mice exhibiting failed amelogenesis and Ambn tissue-specificity]]></article-title>
<source><![CDATA[Mol. Genet. Genomic Med]]></source>
<year>2019</year>
<volume>7</volume>
<numero>9</numero>
<issue>9</issue>
</nlm-citation>
</ref>
<ref id="B23">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lu]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Xiong]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Huang]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Peng]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Cai]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Xiong]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders Int]]></article-title>
<source><![CDATA[J. Oral Sci]]></source>
<year>2018</year>
<volume>10</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>26</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>25</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[CY]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Chadha]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[FAM83H and autosomal dominant hypocalcified amelogenesis imperfecta]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2021</year>
<volume>100</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>293-301</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Urzua]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Martinez]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Ortega-Pinto]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Adorno]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Morales-Bozo]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Riadi]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Jara]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Plaza]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Lefimil]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Lozano]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Reyes]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel]]></article-title>
<source><![CDATA[Arch. Oral Biol]]></source>
<year>2015</year>
<volume>60</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>1356-67</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[CE]]></given-names>
</name>
<name>
<surname><![CDATA[Richardson]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Yamakoshi]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[YL]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Koruyucu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gencay]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Choi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Fam83h null mice support a neomorphic mechanism for human ADHCAI]]></article-title>
<source><![CDATA[Mol. Genet. Genomic Med]]></source>
<year>2015</year>
<volume>4</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>46-67</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>28</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[K; Hu Y ; Smith C E; Yang J ; Zeng C; Kim J.W; Hu J.C.C; Simmer J.P. The enamel phenotype in homozygous Fam83h truncation mice. Mol. Genet]]></article-title>
<source><![CDATA[Genomic Med]]></source>
<year>2019</year>
<volume>7</volume>
<numero>6</numero>
<issue>6</issue>
</nlm-citation>
</ref>
<ref id="B28">
<label>29</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zheng]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Lu]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Xiong]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[He]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Gan]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Guo]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Xiong]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a chinese family]]></article-title>
<source><![CDATA[Clin. Oral Invest]]></source>
<year>2021</year>
<volume>25</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>2915-23</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>30</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Xin]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Wenjun]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Man]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Yuming]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel FAM83H mutations in patients with amelogenesis imperfecta Sci]]></article-title>
<source><![CDATA[Rep]]></source>
<year>2017</year>
<volume>7</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>6075</page-range></nlm-citation>
</ref>
<ref id="B30">
<label>31</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Quan]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Sun]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Zheng]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel FAM83H mutation in one Chinese family with autosomal-dominant hypocalcification amelogenesis imperfecta]]></article-title>
<source><![CDATA[Mutagenesis]]></source>
<year>2018</year>
<volume>33</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>333-40</page-range></nlm-citation>
</ref>
<ref id="B31">
<label>32</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Song]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Bian]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ultrastructural analysis of the teeth affected with amelogenesis imperfecta resulting from FAM83H mutations and review of the literatures]]></article-title>
<source><![CDATA[Oral Surg. Oral Med. Oral Pathol. Oral Radiol]]></source>
<year>2015</year>
<volume>119</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>e69-76</page-range></nlm-citation>
</ref>
<ref id="B32">
<label>33</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kuga]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Sasaki]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Mikami]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Miake]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Adachi]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Shimizu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Saito]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Koura]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Takeda]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Matsuda]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Tomonaga]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Nakayama]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[FAM83H and casein kinase I regulate the organization of the keratin cytoskeleton and formation of desmosomes]]></article-title>
<source><![CDATA[Sci. Rep]]></source>
<year>2016</year>
<volume>6</volume>
<page-range>26557</page-range></nlm-citation>
</ref>
<ref id="B33">
<label>34</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gasse]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Prasad]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Delgado]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Huckert]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kawczynski]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Garret-Bernardin]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Lopez-Cazaux]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bailleul-Forestier]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Manière]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Stoetzel]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Bloch-Zupan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Sire]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Evolutionary analysis predicts sensitive positions of MMP20 and validates newly-and previously-identified MMP20 mutations causing amelogenesis imperfecta]]></article-title>
<source><![CDATA[Front. Physiol]]></source>
<year>2017</year>
<volume>8</volume>
<numero>398</numero>
<issue>398</issue>
</nlm-citation>
</ref>
<ref id="B34">
<label>35</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[S.K]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Chavez]]></surname>
<given-names><![CDATA[M.B]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Koruyucu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kasimoglu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Colvin]]></surname>
<given-names><![CDATA[C.D]]></given-names>
</name>
<name>
<surname><![CDATA[Kolli]]></surname>
<given-names><![CDATA[T.N]]></given-names>
</name>
<name>
<surname><![CDATA[Tan]]></surname>
<given-names><![CDATA[M.H]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[Y.L]]></given-names>
</name>
<name>
<surname><![CDATA[Lu]]></surname>
<given-names><![CDATA[P.Y]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[J.W]]></given-names>
</name>
<name>
<surname><![CDATA[Foster]]></surname>
<given-names><![CDATA[B.L]]></given-names>
</name>
<name>
<surname><![CDATA[Bartlett]]></surname>
<given-names><![CDATA[J.D]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[J.P]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[J.C.C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Dental malformations associated with biallelic MMP20 mutations]]></article-title>
<source><![CDATA[Mol. Genet. Genomic Med]]></source>
<year>2020</year>
<volume>8</volume>
<numero>8</numero>
<issue>8</issue>
</nlm-citation>
</ref>
<ref id="B35">
<label>36</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Park]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[HK]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[DS]]></given-names>
</name>
<name>
<surname><![CDATA[Koruyucu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gencay]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Bayram]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Tuna]]></surname>
<given-names><![CDATA[EB]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[ZH]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[YJ]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel MMP20 and KLK4 mutations in amelogenesis imperfecta]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2015</year>
<volume>94</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>1063-9</page-range></nlm-citation>
</ref>
<ref id="B36">
<label>37</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[YJ]]></given-names>
</name>
<name>
<surname><![CDATA[Kang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Koruyucu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Kasimoglu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Bayram]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Tuna-Ince]]></surname>
<given-names><![CDATA[EB]]></given-names>
</name>
<name>
<surname><![CDATA[Bayrak]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Tuloglu]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Alteration of exon definition causes amelogenesis imperfecta]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2020</year>
<volume>99</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>410-8</page-range></nlm-citation>
</ref>
<ref id="B37">
<label>38</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[YJ]]></given-names>
</name>
<name>
<surname><![CDATA[Kang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Koruyucu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gencay]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Shin]]></surname>
<given-names><![CDATA[TJ]]></given-names>
</name>
<name>
<surname><![CDATA[Hyun]]></surname>
<given-names><![CDATA[HK]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[ZH]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Analyses of MMP20 missense mutations in two families with hypomaturation amelogenesis imperfecta]]></article-title>
<source><![CDATA[Front. Physiol]]></source>
<year>2017</year>
<volume>8</volume>
<numero>229</numero>
<issue>229</issue>
</nlm-citation>
</ref>
<ref id="B38">
<label>39</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[CE]]></given-names>
</name>
<name>
<surname><![CDATA[Richardson]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Bartlett]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[MMP20, KLK4, and MMP20/KLK4 double null mice define roles for matrix proteases during dental enamel formation]]></article-title>
<source><![CDATA[Mol. Genet. Genomic Med]]></source>
<year>2015</year>
<volume>4</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>178-96</page-range></nlm-citation>
</ref>
<ref id="B39">
<label>40</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[CEL]]></given-names>
</name>
<name>
<surname><![CDATA[Kirkham]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Day]]></surname>
<given-names><![CDATA[PF]]></given-names>
</name>
<name>
<surname><![CDATA[Soldani]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Mcderra]]></surname>
<given-names><![CDATA[EJ]]></given-names>
</name>
<name>
<surname><![CDATA[Poulter]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Inglehearn]]></surname>
<given-names><![CDATA[CF]]></given-names>
</name>
<name>
<surname><![CDATA[Mighell]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Brookes]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A fourth KLK4 mutation is associated with enamel hypomineralisation and structural abnormalities]]></article-title>
<source><![CDATA[Front. Physiol]]></source>
<year>2017</year>
<volume>8</volume>
<page-range>333</page-range></nlm-citation>
</ref>
<ref id="B40">
<label>41</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hart]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Hart]]></surname>
<given-names><![CDATA[TC]]></given-names>
</name>
<name>
<surname><![CDATA[Michalec]]></surname>
<given-names><![CDATA[MD]]></given-names>
</name>
<name>
<surname><![CDATA[Ryu]]></surname>
<given-names><![CDATA[OH]]></given-names>
</name>
<name>
<surname><![CDATA[Simmons]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Hong]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Wright]]></surname>
<given-names><![CDATA[JT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta]]></article-title>
<source><![CDATA[J. Med. Genet]]></source>
<year>2004</year>
<volume>41</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>545-9</page-range></nlm-citation>
</ref>
<ref id="B41">
<label>42</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Simmer]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Seymen]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Estrella]]></surname>
<given-names><![CDATA[NMRP]]></given-names>
</name>
<name>
<surname><![CDATA[Pal]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Reid]]></surname>
<given-names><![CDATA[BM]]></given-names>
</name>
<name>
<surname><![CDATA[Yildirim]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bayram]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bartlett]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[JCC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing]]></article-title>
<source><![CDATA[J. Dent. Res]]></source>
<year>2013</year>
<volume>92</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>266-71</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
