Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome is an autosomal recessive birth defect (frequency 1:20,000-1:40,000) that results in profound mental retardation, physical deformities, and failure to thrive. It is characterized biochemically by low plasma cholesterol and greatly elevated levels of two dehydrocholeste...

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Bibliographic Details
Main Authors: G S Tint, M Seller, R Hughes-Benzie, A K Batta, S Shefer, D Genest, M Irons, E Elias, G Salen
Format: Article
Language:English
Published: Elsevier 1995-01-01
Series:Journal of Lipid Research
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520397571

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http://www.sciencedirect.com/science/article/pii/S0022227520397571

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