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Article

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Annals of human genetics - 1 May 2001

Jira P E, Wanders R J, Smeitink J A, De Jong J, Wevers R A, Oostheim W, Tuerlings J H, Hennekam R C, Sengers R C, Waterham H R

Abstract excerpt

Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursor 7-dehydrocholesterol in plasma and tissues. We here report mutations identified in the DHCR7 gene of 13 children...

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Identifiers

PMID: 11427181
DOI: 10.1017/S0003480001008600

Genes

DHCR7

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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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