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Article

Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene.

Fertility and sterility - 1 Nov 2008

Galani Angeliki, Sofocleous Christalena, Karahaliou Feneli, Papathanasiou Asteroula, Kitsiou-Tzeli Sofia, Kalpini-Mavrou Ariadni

Abstract excerpt

OBJECTIVE: To establish the diagnosis of complete androgen insensitivity syndrome (CAIS) in two patients with characteristic clinical and hormonal findings, relative family history in one of them, and unusual Müllerian remnants in the other. DESIGN: Case report. SETTING: Research laboratory in the Department of Medical Genetics at a university children's hospital. PATIENT(S): Two patients with 46,XY sex reversal...

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Identifiers

PMID: 18342859
DOI: 10.1016/j.fertnstert.2008.01.030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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