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
Treatment With Romosozumab In Progressive Pseudorheumatoid Dysplasia.
Bisceglia N et al.
Jcem Case Reports, 2025
Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.
Guven Tasbicen G et al.
International Journal of Molecular Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Khan FU et al.
Clinical Genetics, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Kakar N et al.
Clinical Genetics, 2024
Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood.
Li C et al.
Annals of the Rheumatic Diseases, 2023
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
Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3 , the gene responsible for Progressive Pseudorheumatoid Arthropathy of Childhood.
Li C et al.
Biorxiv : the Preprint Server for Biology, 2023
Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia.
Sassi S et al.
Children (basel, Switzerland), 2022
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
Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.
Iyer GR et al.
Journal of Orthopaedic Surgery and Research, 2022
Progressive pseudorheumatoid dysplasia: a case series report.
Liu Z et al.
Translational Pediatrics, 2021
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
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
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 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
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.
Madhuri V et al.
Bone & Joint Research, 2016
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
Rai E et al.
Scientific Reports, 2016
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
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
Sun J et al.
Plos One, 2012
A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.
Temiz F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
[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
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.
Delague V et al.
American Journal of Medical Genetics. Part A, 2005
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Hurvitz JR et al.
Nature Genetics, 1999
Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports).
Al Kaissi A et al.
Journal of Investigative Medicine High Impact Case Reports, 0
A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia.
Riaz M et al.
Journal of Ayub Medical College, Abbottabad : Jamc, 0