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Article

Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.

Journal of assisted reproduction and genetics - 1 Feb 2020

Pan Sinian, Guo Shili, Liu Liting, Yang Xiaoyuan, Liang Hanmei

Abstract excerpt

PURPOSE: This study aimed to present the clinical features and gene mutation characteristics of a child with 46,XY disorders of sex development (DSD) caused by a novel heterozygous mutation in the NR5A1 gene to determine the potential association between this heterozygous mutation and the pathogenesis of 46,XY DSD. METHODS: We present the case of a Chinese child with ambiguous genitalia at birth but a normal...

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Identifiers

PMID: 31938931
DOI: 10.1007/s10815-019-01676-7
PMCID: PMC7056794

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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