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Article

Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome.

American journal of medical genetics - 10 Sept 1999

Uehara S, Tamura M, Nata M, Kanetake J, Hashiyada M, Terada Y, Yaegashi N, Funato T, Yajima A

Abstract excerpt

We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D...

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Source

Identifiers

PMID: 10449642
DOI: 10.1002/(sici)1096-8628(19990910)86:2<107::aid-ajmg3>3.0.co;2-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10449642-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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