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Article

Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.

Molecular genetics and metabolism - 1 Jul 1998

Nayak S, Lee P A, Witchel S F

Abstract excerpt

To ascertain the potential role of heterozygosity for 3beta-hydroxysteroid (3beta-HSD) deficiency in children with premature pubic hair and adolescent girls with hyperandrogenism, we performed single-strand conformational polymorphism (SSCP) analysis of the 3beta-hydroxysteroid dehydrogenase type 2 (3beta-HSD2) gene in 34 hyperandrogenic patients. Three sequence variants, two missense mutations and a 3'-UTR...

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Source

Identifiers

PMID: 9719627
DOI: 10.1006/mgme.1998.2715

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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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