Article
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
Pediatric rheumatology online journal - 24 Jan 2023
Bağrul İlknur, Ceylaner Serdar, Yildiz Yasemin Tasci, Tuncez Serife, Aydin Elif Arslanoglu, Bağlan Esra, Ozdel Semanur, Bülbül Mehmet
Abstract excerpt
BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome can mimic juvenile idiopathic arthritis. CACP syndrome is caused by mutations in the proteoglycan 4 (PRG4) gene. To...
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