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Article

Phenotypic diversity in siblings with partial androgen insensitivity syndrome.

Archives of disease in childhood - 1 Jun 1997

Evans B A, Hughes I A, Bevan C L, Patterson M N, Gregory J W

Abstract excerpt

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point mutation of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9245853
DOI: 10.1136/adc.76.6.529
PMCID: PMC1717223

Provenance

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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