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Article

Identification and functional analysis of fourteen NR5A1 variants in patients with the 46 XY disorders of sex development.

Gene - 15 Nov 2020

Na Xiaoxue, Mao Yu, Tang Yunman, Jiang Wei, Yu Jing, Cao Li, Yang Jiyun

Abstract excerpt

Human sex determination and differentiation is a complex process, during which NR5A1 plays a central role via the transcriptional regulation of key modulators involved in steroidogenesis. Approximately 8-15% of 46,XY DSD are caused by variants in the NR5A1 gene. Therefore, screening for variants in the NR5A1 gene was performed in a Chinese cohort of sixty-two 46,XY DSD patients with no AR or SRD5A2 variants via...

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PMID: 32738419
DOI: 10.1016/j.gene.2020.145004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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