Novel homozygous variant in
WISP3
juvenile idiopathic arthritis (JIA)
progressive pseudorheumatoid dysplasia (PPD)
rheumatoid arthritis
whole‐genome sequencing (WGS)
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
21
10
2019
revised:
19
02
2020
accepted:
29
03
2020
entrez:
5
9
2020
pubmed:
5
9
2020
medline:
5
9
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32884773
doi: 10.1002/ccr3.2884
pii: CCR32884
pmc: PMC7455413
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1452-1457Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM008203
Pays : United States
Informations de copyright
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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