DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome
โ Scribed by Nowaczyk, Ma?gorzata J.M. ;Heshka, Timothy ;Eng, Barry ;Feigenbaum, Annette J. ;Waye, John S.
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 63 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0148-7299
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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the
It is important that clinical geneticists, where possible, categorise rare autosomal recessive disorders into discrete entities. This has become especially important for those who manage syndrome databases so that individual case reports can be correctly added to the existing literature or be entere