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Article

Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.

American journal of perinatology - 1 Aug 2018

Gibbins Karen J, Reddy Uma M, Saade George R, Goldenberg Robert L, Dudley Donald J, Parker Corette B, Thorsten Vanessa, Pinar Halit, Bukowski Radek, Hogue Carol J, Silver Robert M

Abstract excerpt

OBJECTIVE: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by a defect in cholesterol biosynthesis with mutations in 7-dehydrocholesterol reductase (DHCR7). A total of 3% of Caucasians carry DHCR7 mutations, theoretically resulting in a homozygote frequency of 1/4000. However, SLOS occurs in only 1/20,000 to 60,000 live births. Our objective was to assess DHCR7 mutations in unexplained...

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Identifiers

PMID: 29433144
DOI: 10.1055/s-0038-1626705
PMCID: PMC6060008

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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