AustralieFrV1, Ncbi, Merge, bibRecord, 003397

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Identifieur interne : 003397 ( Ncbi/Merge ); précédent : 003396; suivant : 003398

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Auteurs : Aideen M. Mcinerney-Leo [Australie] ; Carine Le Goff [France] ; Paul J. Leo [Australie] ; Tony J. Kenna [Australie] ; Patricia Keith [Australie] ; Jessica E. Harris [Australie] ; Ruth Steer [Royaume-Uni] ; Christine Bole-Feysot [France] ; Patrick Nitschke [France] ; Cay Kielty [Royaume-Uni] ; Matthew A. Brown [Australie] ; Andreas Zankl [Australie] ; Emma L. Duncan [Australie] ; Valerie Cormier-Daire [France]

Source :

Journal of medical genetics [ 1468-6244 ] ; 2016.

RBID : pubmed:27068007

Descripteurs français

English descriptors

KwdEn :
- Bone Diseases, Developmental (genetics), Exome (genetics), Exons (genetics), Fibrillin-1 (genetics), Heterozygote, Humans, Latent TGF-beta Binding Proteins (genetics), Limb Deformities, Congenital (genetics), Microfilament Proteins (genetics), Mutation, Mutation, Missense (genetics), Phenotype, Transforming Growth Factor beta (genetics), Weill-Marchesani Syndrome (genetics).
MESH :
- chemical , genetics : Fibrillin-1, Latent TGF-beta Binding Proteins, Microfilament Proteins, Transforming Growth Factor beta.
- genetics : Bone Diseases, Developmental, Exome, Exons, Limb Deformities, Congenital, Mutation, Missense, Weill-Marchesani Syndrome.
- Heterozygote, Humans, Mutation, Phenotype.

Abstract

Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. However, not all cases have mutations in these genes.

DOI: 10.1136/jmedgenet-2015-103647
PubMed: 27068007

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Le document en format XML

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</affiliation>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bone Diseases, Developmental (genetics)</term>
<term>Exome (genetics)</term>
<term>Exons (genetics)</term>
<term>Fibrillin-1 (genetics)</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Latent TGF-beta Binding Proteins (genetics)</term>
<term>Limb Deformities, Congenital (genetics)</term>
<term>Microfilament Proteins (genetics)</term>
<term>Mutation</term>
<term>Mutation, Missense (genetics)</term>
<term>Phenotype</term>
<term>Transforming Growth Factor beta (genetics)</term>
<term>Weill-Marchesani Syndrome (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Anomalies morphologiques congénitales des membres (génétique)</term>
<term>Dysplasies osseuses (génétique)</term>
<term>Exome (génétique)</term>
<term>Exons (génétique)</term>
<term>Facteur de croissance transformant bêta (génétique)</term>
<term>Fibrilline-1 (génétique)</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Mutation</term>
<term>Mutation faux-sens (génétique)</term>
<term>Phénotype</term>
<term>Protéines de liaison au TGF-bêta latent (génétique)</term>
<term>Protéines des microfilaments (génétique)</term>
<term>Syndrome de Weill-Marchesani (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fibrillin-1</term>
<term>Latent TGF-beta Binding Proteins</term>
<term>Microfilament Proteins</term>
<term>Transforming Growth Factor beta</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Bone Diseases, Developmental</term>
<term>Exome</term>
<term>Exons</term>
<term>Limb Deformities, Congenital</term>
<term>Mutation, Missense</term>
<term>Weill-Marchesani Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales des membres</term>
<term>Dysplasies osseuses</term>
<term>Exome</term>
<term>Exons</term>
<term>Facteur de croissance transformant bêta</term>
<term>Fibrilline-1</term>
<term>Mutation faux-sens</term>
<term>Protéines de liaison au TGF-bêta latent</term>
<term>Protéines des microfilaments</term>
<term>Syndrome de Weill-Marchesani</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Heterozygote</term>
<term>Humans</term>
<term>Mutation</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Humains</term>
<term>Hétérozygote</term>
<term>Mutation</term>
<term>Phénotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. However, not all cases have mutations in these genes.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27068007</PMID>
<DateCreated><Year>2016</Year>
<Month>06</Month>
<Day>24</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>11</Month>
<Day>01</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>11</Month>
<Day>01</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>53</Volume>
<Issue>7</Issue>
<PubDate><Year>2016</Year>
<Month>Jul</Month>
</PubDate>
</JournalIssue>
<Title>Journal of medical genetics</Title>
<ISOAbbreviation>J. Med. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</ArticleTitle>
<Pagination><MedlinePgn>457-64</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1136/jmedgenet-2015-103647</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. However, not all cases have mutations in these genes.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Individuals negative for mutations in known acromelic dysplasia genes underwent whole exome sequencing.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">A heterozygous missense mutation (exon 14: c.2087C>G: p.Ser696Cys) in latent transforming growth factor β (TGF-β)-binding protein-3 (LTBP3) was identified in a dominant AD family. Two distinct de novo heterozygous LTPB3 mutations were also identified in two unrelated GD individuals who had died in early childhood from respiratory failure-a donor splice site mutation (exon 12 c.1846+5G>A) and a stop-loss mutation (exon 28: c.3912A>T: p.1304*Cysext*12).</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype. We conclude that LTBP3 is a novel component of the microfibrillar network involved in the acromelic dysplasia spectrum.</AbstractText>
<CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>McInerney-Leo</LastName>
<ForeName>Aideen M</ForeName>
<Initials>AM</Initials>
<AffiliationInfo><Affiliation>Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Queensland, Australia The University of Queensland Diamantina Institute, University of Queensland, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Le Goff</LastName>
<ForeName>Carine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Leo</LastName>
<ForeName>Paul J</ForeName>
<Initials>PJ</Initials>
<AffiliationInfo><Affiliation>Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Queensland, Australia The University of Queensland Diamantina Institute, University of Queensland, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kenna</LastName>
<ForeName>Tony J</ForeName>
<Initials>TJ</Initials>
<AffiliationInfo><Affiliation>Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Queensland, Australia The University of Queensland Diamantina Institute, University of Queensland, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Keith</LastName>
<ForeName>Patricia</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Queensland, Australia The University of Queensland Diamantina Institute, University of Queensland, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Harris</LastName>
<ForeName>Jessica E</ForeName>
<Initials>JE</Initials>
<AffiliationInfo><Affiliation>Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Queensland, Australia The University of Queensland Diamantina Institute, University of Queensland, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Steer</LastName>
<ForeName>Ruth</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bole-Feysot</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Plateforme de Génomique, Fondation IMAGINE, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nitschke</LastName>
<ForeName>Patrick</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Plateforme de Bioinformatique, Université Paris Descartes, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kielty</LastName>
<ForeName>Cay</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brown</LastName>
<ForeName>Matthew A</ForeName>
<Initials>MA</Initials>
<AffiliationInfo><Affiliation>Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Queensland, Australia The University of Queensland Diamantina Institute, University of Queensland, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zankl</LastName>
<ForeName>Andreas</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Discipline of Genetic Medicine, University of Sydney, Sydney, Australia Academic Department of Medical Genetics, Sydney Children's Hospital Network (Westmead), Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Duncan</LastName>
<ForeName>Emma L</ForeName>
<Initials>EL</Initials>
<AffiliationInfo><Affiliation>Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Queensland, Australia Department of Endocrinology, James Mayne Building, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia The University of Queensland, University of Queensland Centre for Clinical Research, Herston, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cormier-Daire</LastName>
<ForeName>Valerie</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>04</Month>
<Day>11</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>England</Country>
<MedlineTA>J Med Genet</MedlineTA>
<NlmUniqueID>2985087R</NlmUniqueID>
<ISSNLinking>0022-2593</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D000071838">Fibrillin-1</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C509035">LTBP2 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C509038">LTBP3 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D053779">Latent TGF-beta Binding Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D008840">Microfilament Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D016212">Transforming Growth Factor beta</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C535662">Acromicric dysplasia</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D001848" MajorTopicYN="N">Bone Diseases, Developmental</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D059472" MajorTopicYN="N">Exome</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000071838" MajorTopicYN="N">Fibrillin-1</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D053779" MajorTopicYN="N">Latent TGF-beta Binding Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017880" MajorTopicYN="N">Limb Deformities, Congenital</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008840" MajorTopicYN="N">Microfilament Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016212" MajorTopicYN="N">Transforming Growth Factor beta</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D056846" MajorTopicYN="N">Weill-Marchesani Syndrome</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">acromelic dysplasia</Keyword>
<Keyword MajorTopicYN="N">acromicric dysplasia</Keyword>
<Keyword MajorTopicYN="N">fibrillins</Keyword>
<Keyword MajorTopicYN="N">geleophysic dysplasia</Keyword>
<Keyword MajorTopicYN="N">latent transforming factor-beta binding proteins (LTBP)</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year>
<Month>11</Month>
<Day>19</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>02</Month>
<Day>29</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2016</Year>
<Month>4</Month>
<Day>13</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2016</Year>
<Month>4</Month>
<Day>14</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2017</Year>
<Month>11</Month>
<Day>2</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">27068007</ArticleId>
<ArticleId IdType="pii">jmedgenet-2015-103647</ArticleId>
<ArticleId IdType="doi">10.1136/jmedgenet-2015-103647</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Manchester</li>
<li>Nouvelle-Galles du Sud</li>
<li>Île-de-France</li>
</region>
<settlement><li>Manchester</li>
<li>Paris</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université de Manchester</li>
<li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Mcinerney Leo, Aideen M" sort="Mcinerney Leo, Aideen M" uniqKey="Mcinerney Leo A" first="Aideen M" last="Mcinerney-Leo">Aideen M. Mcinerney-Leo</name>
</noRegion>
<name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A" last="Brown">Matthew A. Brown</name>
<name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L" last="Duncan">Emma L. Duncan</name>
<name sortKey="Harris, Jessica E" sort="Harris, Jessica E" uniqKey="Harris J" first="Jessica E" last="Harris">Jessica E. Harris</name>
<name sortKey="Keith, Patricia" sort="Keith, Patricia" uniqKey="Keith P" first="Patricia" last="Keith">Patricia Keith</name>
<name sortKey="Kenna, Tony J" sort="Kenna, Tony J" uniqKey="Kenna T" first="Tony J" last="Kenna">Tony J. Kenna</name>
<name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J" last="Leo">Paul J. Leo</name>
<name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Le Goff, Carine" sort="Le Goff, Carine" uniqKey="Le Goff C" first="Carine" last="Le Goff">Carine Le Goff</name>
</region>
<name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Steer, Ruth" sort="Steer, Ruth" uniqKey="Steer R" first="Ruth" last="Steer">Ruth Steer</name>
</region>
<name sortKey="Kielty, Cay" sort="Kielty, Cay" uniqKey="Kielty C" first="Cay" last="Kielty">Cay Kielty</name>
</country>
</tree>
</affiliations>
</record>

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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

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