Mol Syndromol 2021 Apr 1;12(2):112-117. Epub 2021 Feb 1.
Department of Medical Genetics, AGENTEM, Cukurova University Faculty of Medicine, Adana, Turkey.
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Read More