Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Slimane Allali, Carine Le Goff, Isabelle Pressac–Diebold, Gwendoline Pfennig, Clémentine Mahaut, Nathalie Dagoneau, Yasemin Alanay, Angela F Brady, Yanick J Crow, Koen Devriendt, Valérie Drouin-Garraud, Elisabeth Flori, David Geneviève, Raoul C Hennekam, Jane Hurst, Deborah Krakow, Martine Le Merrer, Klaske D Lichtenbelt, Sally A Lynch, Stanislas Lyonnet, Kay MacDermot, Sahar Mansour, André Megarbané, Heloisa G Santos, Miranda Splitt, Andrea Superti-Furga, Sheila Unger, Denise Williams, Arnold Munnich, Valérie Cormier-Daire
Journal of Medical Genetics Jun 2011, 48 (6) 417-421; DOI: 10.1136/jmg.2010.087544