Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia.
Chandreshkumar PatelAnas M KhanshourDavid WilkesJonathan J RiosKelly W SheffLorien NassiCarol A WisePublished in: Clinical case reports (2020)
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.