Ontology highlight
ABSTRACT:
SUBMITTER: Koo G
PROVIDER: S-EPMC3027211 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Koo Grace G Conley Sandra K SK Wassif Christopher A CA Porter Forbes D FD
American journal of medical genetics. Part A 20100801 8
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene. During cholesterol biosynthesis, DHCR7 catalyzes the conversion of 7-dehydrocholesterol (7DHC) to cholesterol. A clinical diagnosis of SLOS is confirmed biochemically by the presence of elevated levels of 7DHC. Phenotypic severity of SLOS has previously been shown to correlate with the 7DHC/cholesterol ratio. We describe a patient with a severe SLOS phenotype, ...[more]