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

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

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

  • 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
  • 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.