Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

Bayraklı, FATİH; Guclu, Bulent; Yakicier, Cengiz; Balaban, HATİCE; Kartal, Ugur; Erguner, Bekir; Sagiroglu, Mahmut; Yuksel, Sirin; Ozturk, Ahmet; Kazanci, Burak; Özüm, ÜNAL; Kars, HAMİT

doi:10.1186/1471-2156-14-95

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

Bayraklı F., Guclu B., Yakicier C., Balaban H., Kartal U., Erguner B., ...Daha Fazla

BMC GENETICS, cilt.14, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 14
Basım Tarihi: 2013
Doi Numarası: 10.1186/1471-2156-14-95
Dergi Adı: BMC GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Sivas Cumhuriyet Üniversitesi Adresli: Evet

Özet

Background: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.