Identification of nine novel DHCR7 misse
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John S. Waye; Patrycja A. Krakowiak; Christopher A. Wassif; Allison L. Sterner;
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Article
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2005
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John Wiley and Sons
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English
⚖ 159 KB
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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mu