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Article

RSH (so-called Smith-Lemli-Opitz) syndrome.

Current opinion in pediatrics - 1 Aug 1999

Opitz J M

Abstract excerpt

Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two...

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Identifiers

PMID: 10439210
DOI: 10.1097/00008480-199908000-00015

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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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