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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 redu...

Topics

DNA Mutational Analysis
Humans
Mutation
Oxidoreductases
Oxidoreductases Acting on CH-CH Group Donors
Polymorphism, Genetic
Review Literature as Topic
Smith-Lemli-Opitz Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 11241839
DOI: 10.1002/humu.2

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11241839-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Mutations in the human DHCR7 gene.PMID 11241839Read ↗

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