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

Chandreshkumar Patel, Anas M. Khanshour, David Wilkes, Jonathan J. Rios, Kelly W. Sheff, Lorien Nassi, Carol A. Wise

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1452-1457
Number of pages6
JournalClinical Case Reports
Volume8
Issue number8
DOIs
StatePublished - Aug 1 2020

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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