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.

Detalles Bibliográficos
Autores principales: Patel, Chandreshkumar, Khanshour, Anas M., Wilkes, David, Rios, Jonathan J., Sheff, Kelly W., Nassi, Lorien, Wise, Carol A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455413/
https://www.ncbi.nlm.nih.gov/pubmed/32884773
http://dx.doi.org/10.1002/ccr3.2884

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455413/
https://www.ncbi.nlm.nih.gov/pubmed/32884773
http://dx.doi.org/10.1002/ccr3.2884

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