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Article

Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD.

Gene - 30 Jan 2018

Ramos L, Chávez B, Mares L, Valdés E, Vilchis F

Abstract excerpt

Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed mutational analyses to identify AR molecular defects, in individuals with 46,XY disorders of sex development (46,XY DSD) and a presumptive diagnosis of AIS. Eighteen different gene mutations, including seven previously unreported new variants,...

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Identifiers

PMID: 29051026
DOI: 10.1016/j.gene.2017.10.038

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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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