Article
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
American journal of medical genetics. Part A - 1 Aug 2010
Koo Grace, Conley Sandra K, Wassif Christopher A, Porter Forbes D
Abstract excerpt
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...
Topics
- Adult
- Cholesterol
- Dehydrocholesterols
- Female
- Humans
- Infant, Newborn
- Male
- Mutation
- Oxidoreductases Acting on CH-CH Group Donors
- Phenotype
- Smith-Lemli-Opitz Syndrome