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DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?

✍ Scribed by Małgorzata J.M. Nowaczyk; John S. Waye; James D. Douketis


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
98 KB
Volume
140A
Category
Article
ISSN
1552-4825

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The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol ⌬7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G → C transversion in the splice acce