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Article

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

Molecular genetics and metabolism - 1 Jun 2005

Wassif Christopher A, Krakowiak Patrycja A, Wright Brooke S, Gewandter Jennifer S, Sterner Allison L, Javitt Norman, Yergey Alfred L, Porter Forbes D

Abstract excerpt

Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive, malformation syndrome caused by mutations in the 3beta-hydroxysterol delta7-reductase gene (DHCR7). DHCR7 catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. We report the mutation analysis and determination of residual cholesterol synthesis in 47 SLOS patients, and the effects of treatment of SLOS skin fibroblasts with...

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Source

Identifiers

PMID: 15896653
DOI: 10.1016/j.ymgme.2004.12.009

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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