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 journalArticle

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)
JournalClinical Case Reports
DOIs
StateAccepted/In press - Jan 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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