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Article

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Molecular genetics and metabolism - 1 Jan 2000

Ginat Sharon, Battaile Kevin P, Battaile Brian C, Maslen Cheryl, Gibson K Michael, Steiner Robert D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism characterized by multiple congenital anomalies and mental retardation. SLOS results from mutations in 7-dehydrocholesterol Delta7 reductase (DHCR7), the gene encoding the final enzyme involved in choles...

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Source

Identifiers

PMID: 15464432
DOI: 10.1016/j.ymgme.2004.07.002

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15464432-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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