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Smith-Lemli-Opitz Syndrome - Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome caused by a defect in cholesterol synthesis. SLOS is an autosomal recessive genetic condition caused by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase (7-dehydrocholesterol-delta 7-reductase, DHCR7, EC 1.3.1.21) the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol (7DHC) to cholesterol.Affected individuals usually have low plasma cholesterol levels and invariably have elevated levels of cholesterol precursors including 7DHC. Severely affected individuals (those with the ...

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Smith Lemli Opitz Syndrome

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