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Article

Mutational spectrum of Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2012

Waterham Hans R, Hennekam Raoul C M

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive malformation syndrome characterized by a large spectrum of morphogenic and congenital anomalies. SLOS is caused by mutations in the DHCR7 gene, which encodes 7-dehydrocholesterol reductase, the enzyme that catalyzes the final step in cholesterol biosynthesis. We report on 154 currently known mutations in DHCR7 identified in patients...

Topics

Dehydrocholesterols
Female
Genotype
Humans
Mutation
Oxidoreductases Acting on CH-CH Group Donors
Severity of Illness Index
Smith-Lemli-Opitz Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23042628
DOI: 10.1002/ajmg.c.31346

Genes

DHCR7

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

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