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Article

Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.

The Journal of clinical endocrinology and metabolism - 1 Aug 1996

Rodien P, Mebarki F, Mowszowicz I, Chaussain J L, Young J, Morel Y, Schaison G

Abstract excerpt

Mutations in the coding sequence of the androgen receptor (AR) gene result in a wild range of androgen insensitivity (AI) syndromes. Differences in the clinical expression of the same mutation in unrelated patients have been reported. However, this study reports for the first time strikingly diff...

Topics

Androgens
Base Sequence
Cholestenone 5 alpha-Reductase
Drug Resistance
Female
Genitalia, Male
Humans
Infant
Male
Oxidoreductases
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

RNA, Messenger

Receptors, Androgen

Skin

Source

Identifiers

PMID: 8768864
DOI: 10.1210/jcem.81.8.8768864

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8768864-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.PMID 8768864Read ↗

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