Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

Abstract

Abstract We present the use of whole‐genome sequencing to correctly diagnose progressive pseudorheumatoid dysplasia in patients with atypical clinical and radiologic findings and prior diagnosis of juvenile idiopathic arthritis.

Keywords

• juvenile idiopathic arthritis (JIA)
• progressive pseudorheumatoid dysplasia (PPD)
• rheumatoid arthritis
• whole‐genome sequencing (WGS)
• WISP3