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.

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Patel, Chandreshkumar, Khanshour, Anas M., Wilkes, David, Rios, Jonathan J., Sheff, Kelly W., Nassi, Lorien, Wise, Carol A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7455413/
https://ncbi.nlm.nih.gov/pubmed/32884773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2884
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados