Article
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Italian journal of pediatrics - 24 Mar 2022
Li Liwei, Zhang Junhong, Li Qing, Qiao Li, Li Pengcheng, Cui Yi, Li Shujun, Hao Shirui, Wu Tongqian, Liu Lili, Yin Jianmin, Hu Pingsheng, Dou Xiaowei, Li Shuping, Yang Hui
Abstract excerpt
BACKGROUND: Over 100 mutations in the SRD5A2 gene have been identified in subjects with 46,XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and elucidation of the molecular mechanisms behind their effects should reveal the functions of the domains of the 5α-reductase 2 enzyme and identify the cause of 46,XY DSD. Previously, we reported a novel compound heterozygous p.Q6X/p.H232R mutation of...
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