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, ss.762-778, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 126 Konu: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1172/jci84457
  • Dergi Adı: JOURNAL OF CLINICAL INVESTIGATION
  • Sayfa Sayıları: ss.762-778

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.