Open AccessNovel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
Author(s) -
Patel Chandreshkumar,
Khanshour Anas M.,
Wilkes David,
Rios Jonathan J.,
Sheff Kelly W.,
Nassi Lorien,
Wise Carol A.
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2884
Subject(s) - medicine , dysplasia , arthritis , dermatology , pathology
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.