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


Bayrakli F., Guclu B., Yakicier C. , Balaban H., Kartal U., Erguner B., et al.

BMC GENETICS, cilt.14, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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.