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Article

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

Proceedings of the National Academy of Sciences of the United States of America - 7 Jul 1998

Fitzky B U, Witsch-Baumgartner M, Erdel M, Lee J N, Paik Y K, Glossmann H, Utermann G, Moebius F F

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS) is an inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from mental retardation. Here we identify the SLOS gene as a Delta7-sterol reductase (DHCR7, EC 1.3.1. 21) required for the de novo biosynthesis of cholesterol. The human and murine genes were characterized and assigned to syntenic regions on...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9653161
DOI: 10.1073/pnas.95.14.8181
PMCID: PMC20950

Genes

DHCR7

Provenance

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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