mjl1717
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What is the deficiency in Smith-Lemli-Opitz syndrome?
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| luabe
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A deficiency of the microsomal enzyme DHCR7, which reduces the 7-8 double bond of 7DHC to form cholesterol in the final step of the cholesterol synthetic pathway, was hypothesized and later proven to cause SLOS. Mutations in the DHCR7 gene are responsible for SLOS. Therefore, SLOS can now be considered a classic inborn error of metabolism
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| mjl1717
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YES
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