Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias-Reference-Cited by-同舟云学术

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Published:2011-07 Issue:1 Volume:89 Page:7-14
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Le Goff Carine,Mahaut Clémentine,Wang Lauren W.,Allali Slimane,Abhyankar Avinash,Jensen Sacha,Zylberberg Louise,Collod-Beroud Gwenaelle,Bonnet Damien,Alanay Yasemin,Brady Angela F.,Cordier Marie-Pierre,Devriendt Koen,Genevieve David,Kiper Pelin Özlem Simsek,Kitoh Hiroshi,Krakow Deborah,Lynch Sally Ann,Le Merrer Martine,Mégarbane André,Mortier Geert,Odent Sylvie,Polak Michel,Rohrbach Marianne,Sillence David,Stolte-Dijkstra Irene,Superti-Furga Andrea,Rimoin David L.,Topouchian Vicken,Unger Sheila,Zabel Bernhard,Bole-Feysot Christine,Nitschke Patrick,Handford Penny,Casanova Jean-Laurent,Boileau Catherine,Apte Suneel S.,Munnich Arnold,Cormier-Daire Valérie

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference15 articles.

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4. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation;Le Goff;Nat. Genet.,2008

5. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia;Allali;J. Med. Genet.,2011

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