Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

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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, Scopus) identifier identifier identifier

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.