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Article

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.

American journal of medical genetics - 22 Jul 2001

Nowaczyk M J, McCaughey D, Whelan D T, Porter F D

Abstract excerpt

Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is caused by inherited enzymatic deficiency of 3beta-hydroxysterol-Delta7-reductase (7-dehydrocholesterol-Delta7-reductase, DHCR7). SLOS is diagnosed clinically by the demonstration of elevated levels of 7-dehydrocholesterol (7DHC) in body fluids or tissues. SLOS is associated with mental retardation of variable degree and severe behavior abnormalities. The physical...

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Source

Identifiers

PMID: 11471166
DOI: 10.1002/1096-8628(20010722)102:1<18::aid-ajmg1376>3.0.co;2-e

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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