Associated Papers
Identification and functional analysis of CCN6 variants in progressive pseudorheumatoid dysplasia: Exploring the potential role of ferroptosis and apoptosis in chondrocytes.
Sheng Y et al.
Genes & Diseases, 2026
41262529 (PubMed )
Supplement: mmc6.xlsx › ___1
Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant.
Nilay M et al.
Journal of Pediatric Genetics, 2024
Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.
El Dessouki D et al.
American Journal of Medical Genetics. Part A, 2023
Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.
Wang W et al.
Medicine, 2023
37417608 (PubMed )
Supplement: medi-102-e34099-s001.pdf
Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases.
Sheth H et al.
Frontiers in Genetics, 2021
WISP3 mutation associated with pseudorheumatoid dysplasia.
Sailani MR et al.
Cold Spring Harbor Molecular Case Studies, 2018
Novel and recurrent mutations in WISP3 and an atypical phenotype.
Bhavani GS et al.
American Journal of Medical Genetics. Part A, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Dalal A et al.
American Journal of Medical Genetics. Part A, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Garcia Segarra N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
Sun J et al.
Plos One, 2012
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