Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0787-x.pdf
Reference15 articles.
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2. Bhavani GS, Shah H, Dalal AB, et al. Novel and recurrent mutations in WISP3 and an atypical phenotype. Am J Med Genet A. 2015;167A(10):2481–4.
3. Dalal A, Bhavani GSL, Togarrati PP, et al. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A. 2012;158A(11):2820–8.
4. Delague V, Chouery E, Corbani S, et al. Molecular study of WISP3 in nine families originating from the middle-east and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. Am J Med Genet A. 2005;138A(2):118–26.
5. Ekbote AV, Danda D, Kumar S, Danda S, Madhuri V, Gibikote S. A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from South India: review of literature in comparison with juvenile idiopathic arthritis. Semin Arthritis Rheum. 2013;42(6):582–9.
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