Article
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.
Birth defects research. Part A, Clinical and molecular teratology - 1 Jul 2012
Akawi Nadia A, Ali Bassam R, Al-Gazali Lihadh
Abstract excerpt
BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a clinically heterogenous congenital disorder caused by mutations in proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Although CACP is a rare genetic disord...
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