Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

BAYRAM, Yavuz; KARACA, Ender; AKDEMIR, Zeynep; Yilmaz, Elif; Tayfun, Gulsen; Aydin, Hatip; TORUN, Deniz; Bozdogan, Sevcan; Gezdirici, Alper; Isikay, Sedat; ATILT, Mehmed; GAMBIN, Tomasz; HAREL, Tamar; EL-HATTAB, Ayman; CHARNG, Wu-Lin; PEHLIVAN, Davut; JHANGIANI, Shalini; MUZNY, Donna; Karaman, Ali; CELIK, Tamer; YUREGIR, Ozge; YILDIRIM, Timur; BAYHAN, Ilhan; BOERWINKLE, Eric; GIBBS, Richard; Elcioglu, Nurse; Tuysuz, Beyhan; LUPSKI, James

doi:10.1172/jci84457

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, Scopus)

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.