Article
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Human mutation - 1 Oct 2015
Jurgens Julie, Sobreira Nara, Modaff Peggy, Reiser Catherine A, Seo Soo Hyun, Seong Moon-Woo, Park Sung Sup, Kim Ok Hwa, Cho Tae-Joon, Pauli Richard M
Abstract excerpt
Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. SED, Stanescu type, is a vaguely delineated autosomal-dominant dysplasia of unknown genetic etiology. Here, we report three individuals from two unrelated families with radiological features similar to...
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