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Article

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

Molecular genetics and metabolism - 1 Feb 2005

Correa-Cerro Lina S, Porter Forbes D

Abstract excerpt

In the final step of cholesterol synthesis, 7-dehydrocholesterol reductase (DHCR7) reduces the double bond at C7-8 of 7-dehydrocholesterol to yield cholesterol. Mutations of DHCR7 cause Smith-Lemli-Opitz syndrome (SLOS). Over 100 different mutations of DHCR7 have been identified in SLOS patients. SLOS is a classical multiple malformation, mental retardation syndrome, and was the first human malformation syndrome...

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Source

Identifiers

PMID: 15670717
DOI: 10.1016/j.ymgme.2004.09.017

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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