Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

• Main Authors: Ben Pode-Shakked (Author), Asaf Vivante (Author), Ortal Barel (Author), Shai Padeh (Author), Dina Marek-Yagel (Author), Alvit Veber (Author), Shachar Abudi (Author), Aviva Eliyahu (Author), Irit Tirosh (Author), Shiri Shpilman (Author), Shirlee Shril (Author), Friedhelm Hildebrandt (Author), Mordechai Shohat (Author), Yair Anikster (Author)
• Format: Book
• Published: BMC, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although several hundred cases were reported worldwide, the diagnosis remains...