A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract
Author:
Publisher
Wiley
Subject
Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health
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4. A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family;Basit;Arch Med Res,2011
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1. Le syndrome de camptodactylie-arthropathie-coxa-vara-péricardite : à propos d’un cas;Revue du Rhumatisme;2024-05
2. A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report;Pediatric Rheumatology;2023-01-24
3. Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature;Frontiers in Pediatrics;2022-12-05
4. Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: The First Familial Case in China and Novel Mutations of the Proteoglycan 4 Gene;The Journal of Rheumatology;2022-09-15
5. Monogenic disorders as mimics of juvenile idiopathic arthritis;Pediatric Rheumatology;2022-06-18
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