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Article

Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.

Journal of andrology - 1 Jan 2000

Fernández-Cancio Mónica, Nistal Manuel, Gracia Ricardo, Molina M Antonia, Tovar Juan Antonio, Esteban Cristina, Carrascosa Antonio, Audí Laura

Abstract excerpt

The goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 4...

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Identifiers

PMID: 15064320
DOI: 10.1002/j.1939-4640.2004.tb02808.x

Genes

CGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15064320-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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