Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
- 作者Carine Le Goff; Clémentine Mahaut; Lauren W. Wang; Slimane Allali; Avinash Abhyankar; Sacha Jensen; Louise Zylberberg; Gwenaelle Collod-Beroud; Damien Bonnet; Yasemin Alanay; Angela F. Brady; Marie-Pierre Cordier; Koen Devriendt; David Genevieve; Pelin Özlem Simsek Kiper; Hiroshi Kitoh; Deborah Krakow; Sally Ann Lynch; Martine Le Merrer; André Mégarbane; Geert Mortier; Sylvie Odent; Michel Polak; Marianne Rohrbach; David Sillence; Irene Stolte-Dijkstra; Andrea Superti-Furga; David L. Rimoin; Vicken Topouchian; Sheila Unger; Bernhard Zabel; Christine Bole-Feysot; Patrick Nitschke; Penny Handford; Jean-Laurent Casanova; Catherine Boileau; Suneel S. Apte; Arnold Munnich; Valérie Cormier-Daire
- 卷第89卷
- 期第1期
- 印刷ISSN0002-9297
- 电子ISSN1537-6605
- 文件大小783.24KB
- 发表时间2011
- DOI10.1016/j.ajhg.2011.05.012
- 页码7-14
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