Klippel-Feil syndrome
Definition:
References:
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[1]. Anas M Alazami, et al. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet. 2015 Jun;52(6):400-4. [Content Brief]
[2]. B A Smith, et al. Klippel-Feil syndrome. Ann Emerg Med. 1992 Jul;21(7):876-9. [Content Brief]
[3]. Fatih Bayrakli, et al. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. BMC Genet. 2013 Sep 28;14:95. [Content Brief]
[4]. Ibrahim S Farid, et al. Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery. J Cardiothorac Vasc Anesth. 2003 Aug;17(4):502-5. [Content Brief]
[5]. May Tassabehji, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. [Content Brief]
[6]. Ming Ye, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. [Content Brief]
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