Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

Yilmaz S., Alkaya D. U., Kasapcopur O., Barut K., Akdemir E. S., Celen C., ...Daha Fazla

MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.6, sa.2, ss.230-248, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1002/mgg3.364
  • Dergi Adı: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.230-248
  • İstanbul Üniversitesi Adresli: Evet

Özet

BackgroundThe 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.