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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.
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |