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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo, Aideen M; Le Goff, Carine; Leo, Paul J; Kenna, Tony J; Keith, Patricia; Harris, Jessica E; Steer, Ruth; Bole-Feysot, Christine; Nitschke, Patrick; Kielty, Cay; Brown, Matthew A; Zankl, Andreas; Duncan, Emma L; Cormier-Daire, Valerie.
Affiliation
  • McInerney-Leo AM; 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.
  • Le Goff C; 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.
  • Leo PJ; 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.
  • Kenna TJ; 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.
  • Keith P; 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.
  • Harris JE; 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.
  • Steer R; Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK.
  • Bole-Feysot C; Plateforme de Génomique, Fondation IMAGINE, Paris, France.
  • Nitschke P; Plateforme de Bioinformatique, Université Paris Descartes, Paris, France.
  • Kielty C; Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK.
  • Brown MA; 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.
  • Zankl A; 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.
  • Duncan EL; 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
  • Cormier-Daire V; 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.
J Med Genet ; 53(7): 457-64, 2016 07.
Article in En | MEDLINE | ID: mdl-27068007
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Limb Deformities, Congenital / Mutation, Missense / Latent TGF-beta Binding Proteins Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2016 Document type: Article Affiliation country: Australia Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Limb Deformities, Congenital / Mutation, Missense / Latent TGF-beta Binding Proteins Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2016 Document type: Article Affiliation country: Australia Country of publication: United kingdom