Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Autor: Yanick J. Crow, Gwendoline Pfennig, Miranda Splitt, David Geneviève, Elisabeth Flori, Carine Le Goff, Valérie Drouin-Garraud, Deborah Krakow, Andrea Superti-Furga, Jane A. Hurst, Koenraad Devriendt, Clémentine Mahaut, Sally Ann Lynch, Sahar Mansour, Arnold Munnich, Isabelle Pressac-Diebold, Sheila Unger, Nathalie Dagoneau, Martine Le Merrer, Klaske D Lichtenbelt, Denise Williams, Raoul C.M. Hennekam, Heloísa G. dos Santos, Kay D. MacDermot, Angela F. Brady, Valérie Cormier-Daire, André Mégarbané, Stanislas Lyonnet, Slimane Allali, Yasemin Alanay

Publikováno v: JOURNAL OF MEDICAL GENETICS, 48(6), 417-421. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics, 2011, 48 (6), pp.417. ⟨10.1136/jmg.2010.087544⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.417. ⟨10.1136/jmg.2010.087544⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.417. 〈10.1136/jmg.2010.087544〉
Journal of medical genetics, 48(6), 417-421. BMJ Publishing Group
Journal of Medical Genetics, vol. 48, no. 6, pp. 417-421
Journal of Medical Genetics, 48(6), 417-421. BMJ Publishing Group

Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753a4819aacb8cc1392c7a66d85927bc
https://hdl.handle.net/11245/1.362178