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Article

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A - 1 Aug 2010

Koo Grace, Conley Sandra K, Wassif Christopher A, Porter Forbes D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene. During cholesterol biosynthesis, DHCR7 catalyzes the conversion of 7-dehydrocholesterol (7DHC) to cholesterol. A clinical diagnosis of SLOS is confirmed biochemically by the presence of elevated levels of 7DHC. Phenotypic severity of SLOS has previously been shown to correlate...

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Source

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Identifiers

PMID: 20635399
DOI: 10.1002/ajmg.a.33540
PMCID: PMC3027211

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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