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Article

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

American journal of medical genetics - 22 Apr 2001

Nowaczyk M J, Heshka T, Eng B, Feigenbaum A J, Waye J S

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7). We report on three cousins with SLOS, all of whom were found to be compound heterozygotes for the common splice site mutation IV...

Topics

DNA Mutational Analysis
Dehydrocholesterols
Female
Genotype
Heterozygote
Humans
Male
Mutation, Missense
Oxidoreductases
Oxidoreductases Acting on CH-CH Group Donors
Pedigree
RNA Splice Sites

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Smith-Lemli-Opitz Syndrome

Source

Identifiers

PMID: 11298379
DOI: 10.1002/ajmg.1227

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11298379-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

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

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