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
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Zhang Z et al.
Diagnostics (basel, Switzerland), 2025
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
Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant.
Nilay M et al.
Journal of Pediatric Genetics, 2024
Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report.
Li Y et al.
Frontiers in Immunology, 2024
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
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
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 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
CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.
Hu Q et al.
Bmc Medical Genetics, 2017
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Bae JS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Novel and recurrent mutations in WISP3 and an atypical phenotype.
Bhavani GS et al.
American Journal of Medical Genetics. Part A, 2015
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.
Liu L et al.
Joint Bone Spine, 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
Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.
Ye J et al.
Molecular Medicine Reports, 2012
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
Sun J et al.
Plos One, 2012
[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010