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Article

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

Human molecular genetics - 15 Mar 2006

Correa-Cerro Lina S, Wassif Christopher A, Kratz Lisa, Miller Georgina F, Munasinghe Jeeva P, Grinberg Alexander, Fliesler Steven J, Porter Forbes D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome caused by mutations in the 3beta-hydroxysterol Delta(7)-reductase gene (DHCR7). SLOS patients have decreased cholesterol and increased 7-dehydrocholesterol (7-DHC) levels. Dietary cholesterol supplementation improves systemic biochemical abnormalities; however, because of the blood-brain barrier, the central nervous system (CNS) is not treated. Simvastatin...

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Source

Identifiers

PMID: 16446309
DOI: 10.1093/hmg/ddl003

Genes

DHCR7

Variants

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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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