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Article

Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

Human molecular genetics - 15 Feb 2016

Blassberg Robert, Macrae James I, Briscoe James, Jacob John

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7). Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impairment, epileptiform activity and autism spectrum disorder. Biochemically, there is a deficit in cholesterol and an...

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Source

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Identifiers

PMID: 26685159
DOI: 10.1093/hmg/ddv507
PMCID: PMC4743690

Genes

SHH
SMO
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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