Article
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.
Human genetics - 1 Oct 2016
Yang Haiou, Zheng Zhaojing, Cai Haiqing, Li Huimin, Ye Xingchen, Zhang Xiaoqing, Wang Zhigang, Fu Qihua
Abstract excerpt
Congenital talipes equinovarus (CTEV) is one of the most common musculoskeletal disorders. Genetic factors have been suggested to be an important contributor to its pathogenesis. Some genes, including PITX1, TBX4, and RBM10, have been associated with CTEV. We aimed to determine the disease-causing mutations in Chinese patients with isolated CTEV. Genomic DNA was extracted from peripheral blood samples of a...
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