Article
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Journal of medical genetics - 1 Jun 2011
Allali Slimane, Le Goff Carine, Pressac-Diebold Isabelle, Pfennig Gwendoline, Mahaut Clémentine, Dagoneau Nathalie, Alanay Yasemin, Brady Angela F, Crow Yanick J, Devriendt Koen, Drouin-Garraud Valérie, Flori Elisabeth, Geneviève David, Hennekam Raoul C, Hurst Jane, Krakow Deborah, Le Merrer Martine, Lichtenbelt Klaske D, Lynch Sally A, Lyonnet Stanislas, MacDermot Kay, Mansour Sahar, Megarbané André, Santos Heloisa G, Splitt Miranda, Superti-Furga Andrea, Unger Sheila, Williams Denise, Munnich Arnold, Cormier-Daire Valérie
Abstract excerpt
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 lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A...
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