Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

BAYRAM Y., KARACA E., AKDEMIR Z. C., Yilmaz E. O., Tayfun G. A., Aydin H., ...Daha Fazla

JOURNAL OF CLINICAL INVESTIGATION, cilt.126, sa.2, ss.762-778, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 126 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1172/jci84457
  • Dergi Adı: JOURNAL OF CLINICAL INVESTIGATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.762-778
  • İstanbul Üniversitesi Adresli: Evet

Özet

BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases.