An argument for early genomic sequencing in atypical cases: aWISP3variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood-Reference-Cited by-同舟云学术

An argument for early genomic sequencing in atypical cases: aWISP3variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood

Published:2015-10-22 Issue: Volume: Page:kev367
ISSN:1462-0324
Container-title:Rheumatology
language:en
Short-container-title:Rheumatology

Author:

Cassa Christopher A.,Smith Stacy E.,Docken William,Hoffman Erin,McLaughlin Heather,Chun Sung,Leshchiner Ignaty,Miraoui Hichem,Raychaudhuri Soumya,Frank Natasha Y.,Wilson Brian J.,Sunyaev Shamil R.,Maas Richard L.,Vuzman Dana,

Publisher

Oxford University Press (OUP)

Subject

Pharmacology (medical),Rheumatology

Link

http://academic.oup.com/rheumatology/article-pdf/55/3/586/17389288/kev367.pdf

Reference4 articles.

1. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia;Dalal;Am J Med Genet A,2012

2. 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

3. Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy

4. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

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