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Article

Mutations in the human DHCR7 gene.

Human mutation - 1 Mar 2001

Witsch-Baumgartner M, Löffler J, Utermann G

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder characterized by variable congenital malformations, facial dysmorphism, and mental retardation. Mutations in the DHCR7 gene have been identified in SLOS patients. This gene encodes for the enzyme Delta7-sterol reductase which catalyses the last step of cholesterol biosynthesis. Among the 73 different mutations observed so far,...

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Source

Identifiers

PMID: 11241839
DOI: 10.1002/humu.2

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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