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Article

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

European journal of medical genetics - 1 Jan 2000

Jezela-Stanek A, Ciara E, Malunowicz E M, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol reductase, resulting in an increased concentrations of 7-dehydrocholesterol and 8-dehydrocholesterol in body fluids and tissues. Phenotypically it is characterized by wide range of abnormalities, from mild to lethal forms what causes difficulties in its clinical diagnostics. To further delineate...

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Identifiers

PMID: 18249054
DOI: 10.1016/j.ejmg.2007.11.004

Genes

DHCR7

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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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