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
First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins.
Xu K et al.
American Journal of Medical Genetics. Part A, 2024
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2
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
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.
Wang W et al.
World Journal of Pediatrics : Wjp, 2023
Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.
Uludağ Alkaya D et al.
Rheumatology (oxford, England), 2022
A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.
Yin L et al.
Clinical Rheumatology, 2022
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2
Progressive pseudorheumatoid dysplasia: a rare childhood disease.
Torreggiani S et al.
Rheumatology International, 2019
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
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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