İlknur Bağrul, Serdar Ceylaner, Yasemin Tasci Yildiz, Serife Tuncez, Elif Arslanoglu Aydin, Esra Bağlan, Semanur Ozdel, Mehmet Bülbül
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 date, only 36 pathogenic mutations have been reported in this gene, but none have been reported from Azerbaijan...
January 24, 2023: Pediatric Rheumatology Online Journal