Article
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
American journal of medical genetics. Part C, Seminars in medical genetics - 15 Aug 2012
Garcia Segarra Nuria, Mittaz Laureane, Campos-Xavier Ana Belinda, Bartels Cynthia F, Tuysuz Beyhan, Alanay Yasemin, Cimaz Rolando, Cormier-Daire Valerie, Di Rocco Maja, Duba Hans-Christoph, Elcioglu Nursel H, Forzano Francesca, Hospach Toni, Kilic Esra, Kuemmerle-Deschner Jasmin B, Mortier Geert, Mrusek Sonja, Nampoothiri Sheela, Obersztyn Ewa, Pauli Richard M, Selicorni Angelo, Tenconi Romano, Unger Sheila, Utine G Eda, Wright Michael, Zabel Bernhard, Warman Matthew L, Superti-Furga Andrea, Bonafé Luisa
Abstract excerpt
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1-inducible signaling pathway protein 3; MIM 603400), encoding for a signaling protein. The disease is clinically silent at birth and in infancy. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Affected children are...
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