Biochemical variants of Smith-Lemli-Opit
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Neklason, Deborah W.; Andrews, Katy M.; Kelley, Richard I.; Metherall, James E.
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Article
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1999
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John Wiley and Sons
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English
⚖ 46 KB
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Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations of 7-dehydrocholesterol, the immediate biosyntheti