European Journal of Human Genetics

FIGURE 2

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Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management

Forbes D Porter

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Figure 2.

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Biochemistry of Smith-Lemli-Opitz Syndrome. Mutations of DHCR7 impair the reduction of 7-dehydrocholesterol to cholesterol in the final step of cholesterol biosynthesis. Cholesterol has multiple biological functions which may be disturbed due to the lack of cholesterol, toxic effects of 7DHC, or combination of these two factors.

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