A novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia
pubmed: wnt1 2023-05-31
Summary:
Progressive pseudorheumatoid (PPD) arthritis is a rare genetic disorder resulting from mutations in the Wnt-1 inducible signaling pathway protein-3 gene (WISP3 gene). The disease is characterized by non-inflammatory polyarthropathy, degeneration of joints, metaphyseal dysplasia of limbs and platyspondyly. Here, we report a Chinese PPD patient with a novel WISP3 mutation. A 24-year-old female was presented with 17-year history of polyarticular deformity. At the age of 9, she had decreased...