The Delta-7-Dehydrocholesterol Reductase (DHCR7) gene, which catalyzes the last step in the biosynthesis of cholesterol, is responsible for Smith-Lemli-Opitz syndrome (SLOS, also known as the RSH syndrome). Exons 4, 5, 6, 7, 8 and 9 of the DHCR7 gene contain all pathogenic mutations identified to date. This laboratory performs Sanger sequencing of the DHCR7 gene.
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