Article
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Molecular genetics & genomic medicine - 1 Mar 2018
Yilmaz Saliha, Uludağ Alkaya Dilek, Kasapçopur Özgür, Barut Kenan, Akdemir Ekin S, Celen Cemre, Youngblood Mark W, Yasuno Katsuhito, Bilguvar Kaya, Günel Murat, Tüysüz Beyhan
Abstract excerpt
BACKGROUND: The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage. METHODS: In the present...
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