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Cholesterol synthesis disorders. The postsqualene cholesterol synthesis pathway shows conversion of lanosterol to cholesterol in a series of enzymatic reactions. The genes encoding each of the enzymes are shown in green and the associated cholesterol synthesis disorders are shown in red (Reproduced from J Lipid Res 2011;52:6–34. Porter FD and Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis (24)).
