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Article

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2017

Wassif Christopher A, Kratz Lisa, Sparks Susan E, Wheeler Courtney, Bianconi Simona, Gropman Andrea, Calis Karim A, Kelley Richard I, Tierney Elaine, Porter Forbes D

Abstract excerpt

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/cognitive impairment syndrome characterized by the accumulation of 7-dehydrocholesterol, a precursor sterol of cholesterol. Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor that crosses the blood-brain barrier, has been proposed for the treatment of SLOS based on in vitro and in vivo studies suggesting that...

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Identifiers

PMID: 27513191
DOI: 10.1038/gim.2016.102
PMCID: PMC5303568

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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