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Article

A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.

European review for medical and pharmacological sciences - 1 Nov 2015

Li Y, Qu S, Li P

Abstract excerpt

OBJECTIVE: Androgen insensitivity syndrome (AIS) is characterized by androgen receptor (AR) dysfunction. Its main characteristic is a female phenotype in an individual with a 46, XY karyotype. The molecular basis of this disorder was investigated in two individuals with familial AIS. PATIENTS AND METHODS: The diagnoses of the two individuals were confirmed using ultrasonography, hormonal analysis, operative...

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PMID: 26592841

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

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