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., ...More

JOURNAL OF CLINICAL INVESTIGATION, vol.126, no.2, pp.762-778, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 126 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.1172/jci84457
  • Journal Name: JOURNAL OF CLINICAL INVESTIGATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.762-778
  • Istanbul University Affiliated: Yes

Abstract

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.