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

S Allali, C Le Goff, I Pressac–Diebold… - Journal of medical …, 2011 - jmg.bmj.com
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 …

[CITATION][C] MOLECULAR SCREENING OF ADAMTSL2 GENE IN 33 PATIENTS REVEALS THE GENETIC HETEROGENEITY OF GELEOPHYSIC DYSPLASIA

V Cormier-Daire, S Allali, C Le Goff, I Pressac-Diebold… - 2011 - BMJ Publishing Group Ltd.