Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

doi:10.1093/hmg/9.9.1385

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Article

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Human molecular genetics - 22 May 2000

Yu H, Lee M H, Starck L, Elias E R, Irons M, Salen G, Patel S B, Tint G S

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retardation. Mutations in the gene for Delta(7)-dehydrocholesterol reductase (Delta(7)-reductase), which catalyzes the last step in cholesterol biosynthesis, cause the disease. We...

Topics

Adolescent
Adult
Alleles
Child
Child, Preschool
Cholesterol
DNA Mutational Analysis
Exons
Female
Genotype
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Male

Models, Genetic

Mutation

Mutation, Missense

Oxidoreductases

Source

Open in PubMed

Identifiers

PMID: 10814720
DOI: 10.1093/hmg/9.9.1385

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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