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Article

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.

Molecular genetics and metabolism - 1 Jan 2000

Battaile K P, Steiner R D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7). Clinical signs vary in severity, ranging from fetal loss to holoprosencephaly with multiple malformations to isolated syndactyly. The...

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Source

Identifiers

PMID: 11001806
DOI: 10.1006/mgme.2000.3020

Genes

DHCR7

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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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