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Article

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

American journal of medical genetics - 15 Jun 2002

Nezarati Marjan M, Loeffler Judith, Yoon Grace, MacLaren Linda, Fung Ernest, Snyder Floyd, Utermann Gerd, Graham Gail E

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS), or RSH syndrome, is a well-characterized multiple congenital anomalies/mental retardation syndrome. The phenotype has been redefined to include mildly affected individuals with minor anomalies and developmental delay, and severe malformations with pre- and perinatal mortality. The condition is due to the deficient activity of the enzyme 7-dehydrocholesterol (7-DHC) reductase...

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Identifiers

PMID: 12116246
DOI: 10.1002/ajmg.10367

Genes

DHCR7

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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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