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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

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

Patel Chandreshkumar C Khanshour Anas M AM Wilkes David D Rios Jonathan J JJ Sheff Kelly W KW Nassi Lorien L Wise Carol A CA

Clinical case reports 20200503 8

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. ...[more]

PMID: 32884773

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