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Article

A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred.

Hormone research - 1 Jan 2003

Hafez Mona, Mazen Inas, Ghali Isis, Sultan Charles, Lumbroso Serge

Abstract excerpt

OBJECTIVE: To describe the clinical, biological and molecular data in a large Egyptian kindred with 5alpha-reductase deficiency. PATIENTS AND METHODS: Three patients with ambiguous genitalia were referred at the ages of 20, 9 and 2 years, respectively. In all cases, parents were first cousins. Basal and post-HCG stimulation plasma levels of testosterone and dihydrotestosterone were determined. Direct sequencing...

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Identifiers

PMID: 12784092
DOI: 10.1159/000070626

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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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