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Article

Uniparental disomy in steroid 5alpha-reductase 2 deficiency.

The Journal of clinical endocrinology and metabolism - 1 Sept 2000

Chávez B, Valdez E, Vilchis F

Abstract excerpt

Steroid 5alpha-reductase 2 deficiency is an autosomal recessive form of male pseudohermaphroditism caused by mutations in the SRD5A2 gene. In this study, we performed DNA analyses in two unrelated subjects bearing the enzyme deficiency and found differences in the mode of transmission for the disease. The data showed that in both families the fathers were carriers for an E197D mutation, whereas the mothers were...

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Source

Identifiers

PMID: 10999800
DOI: 10.1210/jcem.85.9.6786

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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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