AustralieFrV1, Main, Exploration, bibRecord, 008306

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Identifieur interne : 008306 ( Main/Exploration ); précédent : 008305; suivant : 008307

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Auteurs : Zandra A. Jenkins [Nouvelle-Zélande] ; Margriet Van Kogelenberg [Nouvelle-Zélande] ; Tim Morgan [Nouvelle-Zélande] ; Aaron Jeffs [Nouvelle-Zélande] ; Ryuji Fukuzawa [Nouvelle-Zélande] ; Esther Pearl [Nouvelle-Zélande] ; Christina Thaller [États-Unis] ; Anne V. Hing [États-Unis] ; Mary E. Porteous [Royaume-Uni] ; Sixto Garcia-Minaur [Royaume-Uni] ; Axel Bohring [Allemagne] ; Didier Lacombe [France] ; Fiona Stewart [Royaume-Uni] ; Torunn Fiskerstrand [Norvège] ; Laurence Bindoff [Norvège] ; Siren Berland [Norvège] ; Lesley C. Ades [Australie] ; Michel Tchan [Australie] ; Albert David [France] ; Louise C. Wilson [Royaume-Uni] ; Raoul C. M. Hennekam [Royaume-Uni] ; Dian Donnai [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Valérie Cormier-Daire [France] ; Stephen P. Robertson [Nouvelle-Zélande]

Source :

Nature genetics [ 1061-4036 ] ; 2009.

RBID : Pascal:09-0199705

Descripteurs français

Pascal (Inist)
- Lignée germinale, Mutation, Carcinogenèse, Dysplasie.

English descriptors

KwdEn :
- Carcinogenesis, Dysplasia, Germ line, Mutation.

Abstract

Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis¹. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling², cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373)³. This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor^4-6. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis</title>
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<author><name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name>
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<author><name sortKey="Fukuzawa, Ryuji" sort="Fukuzawa, Ryuji" uniqKey="Fukuzawa R" first="Ryuji" last="Fukuzawa">Ryuji Fukuzawa</name>
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<author><name sortKey="Thaller, Christina" sort="Thaller, Christina" uniqKey="Thaller C" first="Christina" last="Thaller">Christina Thaller</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Biochemistry and Molecular Biology, Baylor College of Medicine</s1>
<s2>Houston, Texas 77030</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Hing, Anne V" sort="Hing, Anne V" uniqKey="Hing A" first="Anne V." last="Hing">Anne V. Hing</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Division of Craniofacial Medicine, Department of Pediatrics, University of Washington School of Medicine</s1>
<s2>Seattle, Washington 98195</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Seattle, Washington 98195</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Porteous, Mary E" sort="Porteous, Mary E" uniqKey="Porteous M" first="Mary E." last="Porteous">Mary E. Porteous</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>South East Scotland Genetic Service, Western General Hospital</s1>
<s2>Edinburgh EH4 2XU</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garcia Minaur, Sixto" sort="Garcia Minaur, Sixto" uniqKey="Garcia Minaur S" first="Sixto" last="Garcia-Minaur">Sixto Garcia-Minaur</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>South East Scotland Genetic Service, Western General Hospital</s1>
<s2>Edinburgh EH4 2XU</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Institut für Humangenetik, Westfälische Wilhelms-Universitat</s1>
<s2>Münster 48149</s2>
<s3>DEU</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Génétique Medicale, CHU de Bordeaux, Universite de Bordeaux</s1>
<s2>Bordeaux 33800</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>33800</wicri:noRegion>
<wicri:noRegion>Universite de Bordeaux</wicri:noRegion>
<placeName><settlement type="city">Bordeaux</settlement>
<region type="region" nuts="2">Nouvelle-Aquitaine</region>
<region type="old region" nuts="2">Aquitaine</region>
</placeName>
<orgName type="university">Université de Bordeaux</orgName>
</affiliation>
</author>
<author><name sortKey="Stewart, Fiona" sort="Stewart, Fiona" uniqKey="Stewart F" first="Fiona" last="Stewart">Fiona Stewart</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Medical Genetics, Belfast City Hospital</s1>
<s2>Belfast BT9 7AB, Northern Ireland</s2>
<s3>GBR</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Belfast BT9 7AB, Northern Ireland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fiskerstrand, Torunn" sort="Fiskerstrand, Torunn" uniqKey="Fiskerstrand T" first="Torunn" last="Fiskerstrand">Torunn Fiskerstrand</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital</s1>
<s2>Bergen 5021</s2>
<s3>NOR</s3>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Norvège</country>
<wicri:noRegion>Bergen 5021</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bindoff, Laurence" sort="Bindoff, Laurence" uniqKey="Bindoff L" first="Laurence" last="Bindoff">Laurence Bindoff</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Institute of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital</s1>
<s2>Bergen 5021</s2>
<s3>NOR</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Norvège</country>
<wicri:noRegion>Bergen 5021</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital</s1>
<s2>Bergen 5021</s2>
<s3>NOR</s3>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Norvège</country>
<wicri:noRegion>Bergen 5021</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ades, Lesley C" sort="Ades, Lesley C" uniqKey="Ades L" first="Lesley C." last="Ades">Lesley C. Ades</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Department of Clinical Genetics, Children's Hospital at Westmead</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="14"><s1>Discipline of Paediatrics and Child Health, University of Sydney</s1>
<s2>Sydney NSW 2101</s2>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author><name sortKey="Tchan, Michel" sort="Tchan, Michel" uniqKey="Tchan M" first="Michel" last="Tchan">Michel Tchan</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Department of Clinical Genetics, Children's Hospital at Westmead</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Clinical Genetics Department, Nantes University Hospital</s1>
<s2>Nantes 44093</s2>
<s3>FRA</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>44093</wicri:noRegion>
<wicri:noRegion>Nantes University Hospital</wicri:noRegion>
<wicri:noRegion>Nantes 44093</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wilson, Louise C" sort="Wilson, Louise C" uniqKey="Wilson L" first="Louise C." last="Wilson">Louise C. Wilson</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Clinical and Molecular Genetics Unit, Institute for Child Health</s1>
<s2>London WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Clinical and Molecular Genetics Unit, Institute for Child Health</s1>
<s2>London WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Donnai, Dian" sort="Donnai, Dian" uniqKey="Donnai D" first="Dian" last="Donnai">Dian Donnai</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Clinical Genetics, St Mary's Hospital</s1>
<s2>Manchester M13 OJH</s2>
<s3>GBR</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Manchester M13 OJH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>South West Thames Regional Genetics Unit, St George's Hospital</s1>
<s2>London SW17 ORE</s2>
<s3>GBR</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London SW17 ORE</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Département de Génétique, Hôpital Necker-Enfants Malades</s1>
<s2>Paris 75743</s2>
<s3>FRA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75743</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1>
<s2>Dunedin 9054</s2>
<s3>NZL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Nouvelle-Zélande</country>
<wicri:noRegion>Dunedin 9054</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Carcinogenesis</term>
<term>Dysplasia</term>
<term>Germ line</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Lignée germinale</term>
<term>Mutation</term>
<term>Carcinogenèse</term>
<term>Dysplasie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis<sup>1</sup>
. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling<sup>2</sup>
, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373)<sup>3</sup>
. This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor<sup>4-6</sup>
. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Norvège</li>
<li>Nouvelle-Zélande</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Aquitaine</li>
<li>District de Münster</li>
<li>Nouvelle-Aquitaine</li>
<li>Nouvelle-Galles du Sud</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Texas</li>
<li>Île-de-France</li>
</region>
<settlement><li>Bordeaux</li>
<li>Houston</li>
<li>Münster</li>
<li>Paris</li>
<li>Sydney</li>
</settlement>
<orgName><li>Baylor College of Medicine</li>
<li>Université de Bordeaux</li>
<li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="Nouvelle-Zélande"><noRegion><name sortKey="Jenkins, Zandra A" sort="Jenkins, Zandra A" uniqKey="Jenkins Z" first="Zandra A." last="Jenkins">Zandra A. Jenkins</name>
</noRegion>
<name sortKey="Fukuzawa, Ryuji" sort="Fukuzawa, Ryuji" uniqKey="Fukuzawa R" first="Ryuji" last="Fukuzawa">Ryuji Fukuzawa</name>
<name sortKey="Jeffs, Aaron" sort="Jeffs, Aaron" uniqKey="Jeffs A" first="Aaron" last="Jeffs">Aaron Jeffs</name>
<name sortKey="Morgan, Tim" sort="Morgan, Tim" uniqKey="Morgan T" first="Tim" last="Morgan">Tim Morgan</name>
<name sortKey="Pearl, Esther" sort="Pearl, Esther" uniqKey="Pearl E" first="Esther" last="Pearl">Esther Pearl</name>
<name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name>
<name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name>
</country>
<country name="États-Unis"><region name="Texas"><name sortKey="Thaller, Christina" sort="Thaller, Christina" uniqKey="Thaller C" first="Christina" last="Thaller">Christina Thaller</name>
</region>
<name sortKey="Hing, Anne V" sort="Hing, Anne V" uniqKey="Hing A" first="Anne V." last="Hing">Anne V. Hing</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Porteous, Mary E" sort="Porteous, Mary E" uniqKey="Porteous M" first="Mary E." last="Porteous">Mary E. Porteous</name>
</noRegion>
<name sortKey="Donnai, Dian" sort="Donnai, Dian" uniqKey="Donnai D" first="Dian" last="Donnai">Dian Donnai</name>
<name sortKey="Garcia Minaur, Sixto" sort="Garcia Minaur, Sixto" uniqKey="Garcia Minaur S" first="Sixto" last="Garcia-Minaur">Sixto Garcia-Minaur</name>
<name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name>
<name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<name sortKey="Stewart, Fiona" sort="Stewart, Fiona" uniqKey="Stewart F" first="Fiona" last="Stewart">Fiona Stewart</name>
<name sortKey="Wilson, Louise C" sort="Wilson, Louise C" uniqKey="Wilson L" first="Louise C." last="Wilson">Louise C. Wilson</name>
</country>
<country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name>
</region>
</country>
<country name="France"><region name="Nouvelle-Aquitaine"><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
</region>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name>
</country>
<country name="Norvège"><noRegion><name sortKey="Fiskerstrand, Torunn" sort="Fiskerstrand, Torunn" uniqKey="Fiskerstrand T" first="Torunn" last="Fiskerstrand">Torunn Fiskerstrand</name>
</noRegion>
<name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name>
<name sortKey="Bindoff, Laurence" sort="Bindoff, Laurence" uniqKey="Bindoff L" first="Laurence" last="Bindoff">Laurence Bindoff</name>
</country>
<country name="Australie"><noRegion><name sortKey="Ades, Lesley C" sort="Ades, Lesley C" uniqKey="Ades L" first="Lesley C." last="Ades">Lesley C. Ades</name>
</noRegion>
<name sortKey="Ades, Lesley C" sort="Ades, Lesley C" uniqKey="Ades L" first="Lesley C." last="Ades">Lesley C. Ades</name>
<name sortKey="Tchan, Michel" sort="Tchan, Michel" uniqKey="Tchan M" first="Michel" last="Tchan">Michel Tchan</name>
</country>
</tree>
</affiliations>
</record>

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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

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