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

doi:10.1002/ccr3.2884

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 journal › Article › peer-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 language	English (US)
Pages (from-to)	1452-1457
Number of pages	6
Journal	Clinical Case Reports
Volume	8
Issue number	8
DOIs	https://doi.org/10.1002/ccr3.2884
State	Published - Aug 1 2020

Keywords

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

ASJC Scopus subject areas

General Medicine

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10.1002/ccr3.2884

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title = "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.",

keywords = "WISP3, juvenile idiopathic arthritis (JIA), progressive pseudorheumatoid dysplasia (PPD), rheumatoid arthritis, whole-genome sequencing (WGS)",

author = "Chandreshkumar Patel and Khanshour, {Anas M.} and David Wilkes and Rios, {Jonathan J.} and Sheff, {Kelly W.} and Lorien Nassi and Wise, {Carol A.}",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd",

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AU - Patel, Chandreshkumar

AU - Khanshour, Anas M.

AU - Wilkes, David

AU - Rios, Jonathan J.

AU - Sheff, Kelly W.

AU - Nassi, Lorien

AU - Wise, Carol A.

PY - 2020/8/1

Y1 - 2020/8/1

N2 - 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.

AB - 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.

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KW - progressive pseudorheumatoid dysplasia (PPD)

KW - rheumatoid arthritis

KW - whole-genome sequencing (WGS)

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

Abstract

Keywords

ASJC Scopus subject areas

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