AustralieFrV1, Main, Exploration, bibRecord, 004590

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Identifieur interne : 004590 ( Main/Exploration ); précédent : 004589; suivant : 004591

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Auteurs : Alexander G. Marneros [États-Unis] ; Anita E. Beck [États-Unis] ; Emily H. Turner [États-Unis] ; Margaret J. Mcmillin [États-Unis] ; Matthew J. Edwards [Australie] ; Michael Field [Australie] ; Nara Lygia De Macena Sobreira [États-Unis] ; Ana Beatriz A. Perez [Brésil] ; Jose A. R. Fortes [Brésil] ; Anne K. Lampe [Royaume-Uni] ; Maria Luisa Giovannucci Uzielli [Italie] ; Christopher T. Gordon [France] ; Ghislaine Plessis [France] ; Martine Le Merrer [France] ; Jeanne Amiel [France] ; Ernst Reichenberger [États-Unis] ; Kathryn M. Shively [États-Unis] ; Felecia Cerrato [États-Unis] ; Brian I. Labow [États-Unis] ; Holly K. Tabor [États-Unis] ; Joshua D. Smith [États-Unis] ; Jay Shendure [États-Unis] ; Deborah A. Nickerson [États-Unis] ; Michael J. Bamshad [États-Unis]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2013.

RBID : PMC:3617379

Abstract

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617379

DOI: 10.1016/j.ajhg.2013.03.002
PubMed: 23541344
PubMed Central: 3617379

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>KCTD1</italic>
 Cause Scalp-Ear-Nipple Syndrome</title>
<author><name sortKey="Marneros, Alexander G" sort="Marneros, Alexander G" uniqKey="Marneros A" first="Alexander G." last="Marneros">Alexander G. Marneros</name>
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<author><name sortKey="De Macena Sobreira, Nara Lygia" sort="De Macena Sobreira, Nara Lygia" uniqKey="De Macena Sobreira N" first="Nara Lygia" last="De Macena Sobreira">Nara Lygia De Macena Sobreira</name>
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<wicri:regionArea>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD 21205</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Perez, Ana Beatriz A" sort="Perez, Ana Beatriz A" uniqKey="Perez A" first="Ana Beatriz A." last="Perez">Ana Beatriz A. Perez</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Clinical Genetics Center, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04021-001, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Clinical Genetics Center, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04021-001</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fortes, Jose A R" sort="Fortes, Jose A R" uniqKey="Fortes J" first="Jose A. R." last="Fortes">Jose A. R. Fortes</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Departament of Internal Medicine, Pontifícia Universidade Católica do Paraná, Curitiba 1155, Brasil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Departament of Internal Medicine, Pontifícia Universidade Católica do Paraná, Curitiba 1155</wicri:regionArea>
<wicri:noRegion>Curitiba 1155</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lampe, Anne K" sort="Lampe, Anne K" uniqKey="Lampe A" first="Anne K." last="Lampe">Anne K. Lampe</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh EH4 2XU, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh EH4 2XU</wicri:regionArea>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria Luisa" last="Giovannucci Uzielli">Maria Luisa Giovannucci Uzielli</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Genetics and Molecular Medicine, University of Florence, Florence 50132, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Genetics and Molecular Medicine, University of Florence, Florence 50132</wicri:regionArea>
<wicri:noRegion>Florence 50132</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Genetic Science, Florence I-50132, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Genetic Science, Florence I-50132</wicri:regionArea>
<wicri:noRegion>Florence I-50132</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Institut National de la Santé et de la Recherche Médicale U781, Département de Génétique, Hôpital Necker Enfants Malades, Paris 75015, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U781, Département de Génétique, Hôpital Necker Enfants Malades, Paris 75015</wicri:regionArea>
<wicri:noRegion>75015</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff13">Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015</wicri:regionArea>
<wicri:noRegion>75015</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9</wicri:regionArea>
<wicri:noRegion>14033 Cedex 9</wicri:noRegion>
<wicri:noRegion>14033 Cedex 9</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9</wicri:regionArea>
<wicri:noRegion>14033 Cedex 9</wicri:noRegion>
<wicri:noRegion>14033 Cedex 9</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9</wicri:regionArea>
<wicri:noRegion>14033 Cedex 9</wicri:noRegion>
<wicri:noRegion>14033 Cedex 9</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Reichenberger, Ernst" sort="Reichenberger, Ernst" uniqKey="Reichenberger E" first="Ernst" last="Reichenberger">Ernst Reichenberger</name>
<affiliation wicri:level="2"><nlm:aff id="aff15">Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06030</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shively, Kathryn M" sort="Shively, Kathryn M" uniqKey="Shively K" first="Kathryn M." last="Shively">Kathryn M. Shively</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Cerrato, Felecia" sort="Cerrato, Felecia" uniqKey="Cerrato F" first="Felecia" last="Cerrato">Felecia Cerrato</name>
<affiliation wicri:level="2"><nlm:aff id="aff16">Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Labow, Brian I" sort="Labow, Brian I" uniqKey="Labow B" first="Brian I." last="Labow">Brian I. Labow</name>
<affiliation wicri:level="2"><nlm:aff id="aff16">Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tabor, Holly K" sort="Tabor, Holly K" uniqKey="Tabor H" first="Holly K." last="Tabor">Holly K. Tabor</name>
<affiliation wicri:level="2"><nlm:aff id="aff17">Treuman-Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Treuman-Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Smith, Joshua D" sort="Smith, Joshua D" uniqKey="Smith J" first="Joshua D." last="Smith">Joshua D. Smith</name>
<affiliation wicri:level="4"><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
<affiliation wicri:level="4"><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Nickerson, Deborah A" sort="Nickerson, Deborah A" uniqKey="Nickerson D" first="Deborah A." last="Nickerson">Deborah A. Nickerson</name>
<affiliation wicri:level="4"><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J." last="Bamshad">Michael J. Bamshad</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (<italic>KCTD1</italic>
) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed <italic>KCTD1</italic>
 missense mutations in each family tested. All of the mutations occurred in a <italic>KCTD1</italic>
 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in <italic>TFAP2A</italic>
 cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of <italic>KCTD1</italic>
 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Brésil</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Connecticut</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Washington (État)</li>
<li>État de São Paulo</li>
<li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
<li>Seattle</li>
<li>São Paulo</li>
</settlement>
<orgName><li>Université de Washington</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Marneros, Alexander G" sort="Marneros, Alexander G" uniqKey="Marneros A" first="Alexander G." last="Marneros">Alexander G. Marneros</name>
</region>
<name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J." last="Bamshad">Michael J. Bamshad</name>
<name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J." last="Bamshad">Michael J. Bamshad</name>
<name sortKey="Beck, Anita E" sort="Beck, Anita E" uniqKey="Beck A" first="Anita E." last="Beck">Anita E. Beck</name>
<name sortKey="Cerrato, Felecia" sort="Cerrato, Felecia" uniqKey="Cerrato F" first="Felecia" last="Cerrato">Felecia Cerrato</name>
<name sortKey="De Macena Sobreira, Nara Lygia" sort="De Macena Sobreira, Nara Lygia" uniqKey="De Macena Sobreira N" first="Nara Lygia" last="De Macena Sobreira">Nara Lygia De Macena Sobreira</name>
<name sortKey="Labow, Brian I" sort="Labow, Brian I" uniqKey="Labow B" first="Brian I." last="Labow">Brian I. Labow</name>
<name sortKey="Mcmillin, Margaret J" sort="Mcmillin, Margaret J" uniqKey="Mcmillin M" first="Margaret J." last="Mcmillin">Margaret J. Mcmillin</name>
<name sortKey="Nickerson, Deborah A" sort="Nickerson, Deborah A" uniqKey="Nickerson D" first="Deborah A." last="Nickerson">Deborah A. Nickerson</name>
<name sortKey="Reichenberger, Ernst" sort="Reichenberger, Ernst" uniqKey="Reichenberger E" first="Ernst" last="Reichenberger">Ernst Reichenberger</name>
<name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
<name sortKey="Shively, Kathryn M" sort="Shively, Kathryn M" uniqKey="Shively K" first="Kathryn M." last="Shively">Kathryn M. Shively</name>
<name sortKey="Smith, Joshua D" sort="Smith, Joshua D" uniqKey="Smith J" first="Joshua D." last="Smith">Joshua D. Smith</name>
<name sortKey="Tabor, Holly K" sort="Tabor, Holly K" uniqKey="Tabor H" first="Holly K." last="Tabor">Holly K. Tabor</name>
<name sortKey="Turner, Emily H" sort="Turner, Emily H" uniqKey="Turner E" first="Emily H." last="Turner">Emily H. Turner</name>
</country>
<country name="Australie"><noRegion><name sortKey="Edwards, Matthew J" sort="Edwards, Matthew J" uniqKey="Edwards M" first="Matthew J." last="Edwards">Matthew J. Edwards</name>
</noRegion>
<name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name>
</country>
<country name="Brésil"><region name="État de São Paulo"><name sortKey="Perez, Ana Beatriz A" sort="Perez, Ana Beatriz A" uniqKey="Perez A" first="Ana Beatriz A." last="Perez">Ana Beatriz A. Perez</name>
</region>
<name sortKey="Fortes, Jose A R" sort="Fortes, Jose A R" uniqKey="Fortes J" first="Jose A. R." last="Fortes">Jose A. R. Fortes</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Lampe, Anne K" sort="Lampe, Anne K" uniqKey="Lampe A" first="Anne K." last="Lampe">Anne K. Lampe</name>
</noRegion>
</country>
<country name="Italie"><noRegion><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria Luisa" last="Giovannucci Uzielli">Maria Luisa Giovannucci Uzielli</name>
</noRegion>
<name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria Luisa" last="Giovannucci Uzielli">Maria Luisa Giovannucci Uzielli</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name>
</region>
<name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name>
<name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

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