A novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia
Author:
Affiliation:
1. From the Department of Rheumatology and Immunology, Peking University People's Hospital , Beijing, China
2. Department of Rheumatology and Immunology, Peking University International Hospital , Beijing, China
Funder
National Natural Science Foundation of China
Clinical Medicine plus X-Young Scholars Project of Peking University
Fundamental Research Funds for the Central Universities
Publisher
Oxford University Press (OUP)
Subject
General Medicine
Link
https://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcad015/49243686/hcad015.pdf
Reference4 articles.
1. Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A “new” disorder of autosomal recessive inheritance;Wynne-Davies;J Bone Joint Surg Br,1982
2. Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia;Yu;Mol Med Rep,2015
3. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia;Hurvitz;Nat Genet,1999
4. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals;Garcia Segarra;Am J Med Genet C Semin Med Genet,2012
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