@article{3113d6427e7743cea3aee61193651bb5,
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 = "Funding Information: We thank the patients and their families for their participation in this study. This study was funded by Texas Scottish Rite Hospital for Children project number 1333. CP was supported by National Institutes of Health grant 2T32GM008203‐26A1. Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd",
year = "2020",
month = aug,
day = "1",
doi = "10.1002/ccr3.2884",
language = "English (US)",
volume = "8",
pages = "1452--1457",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "8",
}