Article
Combined in vitro and in silico analyses of FGFR1 variants: genotype-phenotype study in idiopathic hypogonadotropic hypogonadism.
Clinical genetics - 1 Oct 2020
Wang Daoqi, Niu Yonghua, Tan Jiahong, Chen Yinwei, Xu Hao, Ling Qing, Gong Jianan, Ling Le, Wang Jiaxin, Wang Tao, Liu Jihong
Abstract excerpt
Fibroblast growth factor receptor 1 (FGFR1) is an idiopathic hypogonadotropic hypogonadism (IHH)-associated gene, mutated in approximately 10% of the patients with this condition. Through targeted gene sequencing of 153 males with IHH and 100 healthy controls, we identified 10 mutations in FGFR1 from IHH patients with a frequency of 5.9% in the Chinese population of central China. These included nine missense...
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