Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia.
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.
['Patel|Chandreshkumar|C|https://orcid.org/0000-0001-7437-7036', 'Khanshour|Anas M|AM|', 'Wilkes|David|D|', 'Rios|Jonathan J|JJ|', 'Sheff|Kelly W|KW|', 'Nassi|Lorien|L|', 'Wise|Carol A|CA|https://orcid.org/0000-0002-6790-2194']
WISP3 juvenile idiopathic arthritis (JIA) progressive pseudorheumatoid dysplasia (PPD) rheumatoid arthritis whole‐genome sequencing (WGS)