Article
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
American journal of medical genetics. Part A - 1 Oct 2005
Delague Valérie, Chouery Eliane, Corbani Sandra, Ghanem Ismat, Aamar Suhail, Fischer Judith, Levy-Lahad Ephrat, Urtizberea J Andoni, Mégarbané André
Abstract excerpt
Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is caused by mutations of the WISP3 gene located on chromosome 6q22. We hereby report the molecular study of the WISP3 gene in nine...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.