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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom