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Article

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Annals of human genetics - 1 May 2003

Jira P E, Waterham H R, Wanders R J A, Smeitink J A M, Sengers R C A, Wevers R A

Abstract excerpt

Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, is caused by a defect of cholesterol biosynthesis. Low cholesterol and high concentrations of its direct precursor, 7-dehydrocholesterol, in plasma and tissues are the diagnostic biochemical hallmarks of the syndrome. The plasma sterol concentrations correlate with severity and disease outcome. Mutations in...

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Share to Cholesterol
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Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12914579
DOI: 10.1046/j.1469-1809.2003.00034.x

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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