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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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
A novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia.
Zou YD et al.
Qjm : Monthly Journal of the Association of Physicians, 2023
WISP3 mutation associated with pseudorheumatoid dysplasia.
Sailani MR et al.
Cold Spring Harbor Molecular Case Studies, 2018
Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
Alawbathani S et al.
Cold Spring Harbor Molecular Case Studies, 2018
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
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