Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development
SRD5A2 复合杂合突变 p.Q6X/p.H232R 导致 46,XY 性发育障碍的突变分析
期刊:Italian Journal of Pediatrics
影响因子:3.2
doi:10.1186/s13052-022-01243-4
Liwei Li #, Junhong Zhang #, Qing Li, Li Qiao, Pengcheng Li, Yi Cui, Shujun Li, Shirui Hao, Tongqian Wu, Lili Liu, Jianmin Yin, Pingsheng Hu, Xiaowei Dou, Shuping Li, Hui Yang