Article
Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.
Asian journal of andrology - 1 Jan 2000
Shi Jian-Wu, Zhou Yi-Wen, Chen Yu-Fei, Ye Mei, Qiao Feng, Tian Jia-Wei, Zhang Meng-Ya, Lin Hao-Cheng, Xie Gang-Cai, Fok Kin Lam, Jiang Hui, Liu Yang, Chen Hao
Abstract excerpt
This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient...
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