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Article

New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency.

American journal of medical genetics - 26 Nov 1999

Ferraz L F, Mathias Baptista M T, Maciel-Guerra A T, Júnior G G, Hackel C

Abstract excerpt

Male pseudohermaphroditism caused by steroid 5alpha-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5alpha-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is required for normal differentiation of the external male genitalia. This report describes the molecular analysis of the 5alpha-reductase type 2 gene in a Brazilian...

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Source

Identifiers

PMID: 10564874
DOI: 10.1002/(sici)1096-8628(19991126)87:3<221::aid-ajmg5>3.0.co;2-#

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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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