Article
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
BMC musculoskeletal disorders - 11 Apr 2020
Li Ziquan, Zhao Sen, Cai Siyi, Zhang Yuanqiang, Wang Lianlei, Niu Yuchen, Li Xiaoxin, Hu Jianhua, Chen Jingdan, Wang Shengru, Wang Huizi, Liu Gang, Tian Ye, Wu Zhihong, Zhang Terry Jianguo, Wang Yipeng, Wu Nan
Abstract excerpt
BACKGROUND: Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying molecular etiology remains largely unknown because of the genetic and phenotypic heterogeneity. METHODS: We consecutively recruited a Chinese cohort of 37 patients with KFS. The clinical manifestations and radiological assessments were analyzed and whole-exome sequencing...
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