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Article

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

American journal of medical genetics - 6 Aug 1998

Nowaczyk M J, Whelan D T, Hill R E

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-delta7-reductase and resultant cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation. We report on three related patients (two brothers and their first cousin) with mental retardation and minimal physical signs in whom the diagnosis of SLO was...

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Source

Identifiers

PMID: 9714007
DOI: 10.1002/(sici)1096-8628(19980806)78:5<419::aid-ajmg5>3.0.co;2-g

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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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