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Article

Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Journal of inherited metabolic disease - 1 Nov 2007

Blahakova I, Makaturova E, Kotrbova L, Soukupova M, Lastuvkova J, Kozak L

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder. SLOS is caused by the mutations in the gene for 3beta-hydroxysterol Delta(7) reductase (DHCR7; EC 1.3.1.21), which maps to chromosome 11q12-13. DHCR7 catalyses the final step in cholesterol biosynthesis-the reduction of 7-dehydrocholesterol to cholesterol. Clinical severity ranges from mild dysmorphism to severe congenital...

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Source

Identifiers

PMID: 17994283
DOI: 10.1007/s10545-007-0710-z

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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