Published January 1, 2013 | Version v1
Journal article Open

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

  • 1. Sevket Yilmaz Res & Training Hosp, Minist Hlth, Neurosurg Clin, Bursa, Turkey
  • 2. Acibadem Univ, Sch Med, Dept Med Biol, Istanbul, Turkey
  • 3. Cumhuriyet Univ, Sch Med, Dept Neurol, Sivas, Turkey
  • 4. Cumhuriyet Univ, Sch Med, Dept Neurosurg, Mol Neurogenet Res Lab, Sivas, Turkey
  • 5. TUBITAK BILGEM, Kocaeli, Turkey
  • 6. Middle E Tech Univ, Inst Informat, TR-06531 Ankara, Turkey
  • 7. Cumhuriyet Univ, Sch Med, Dept Neurosurg, TR-58140 Merkez, Sivas, Turkey

Description

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.

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