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

Authors: Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, Slimane Allali, Avinash Abhyankar, Sacha A. Jensen, Louise Zylberberg, Gwenaëlle Collod‐Béroud, Damien Bonnet, Yasemin Alanay, Angela F. Brady, Marie‐Pierre Cordier, Koenraad Devriendt, David Geneviève, Pelin Özlem Simsek Kiper, Hiroshi Kitoh, Deborah Krakow, Sally Ann Lynch, M Le Merrer, André Mégarbané, 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 Bôle‐Feysot, Patrick Nitschké, Penny A. Handford, Jean‐Laurent Casanova, Cathérine Boileau, Suneel Apte, Arnold Münnich, Valérie Cormier‐Daire - The American Journal of Human Genetics 2011 cited by 233