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

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.

SUBMITTER: Patel C 

PROVIDER: S-EPMC7455413 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature