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
โฆ LIBER โฆ
A novel 7-DHCR mutation in a lebanese child with Smith-Lemli-Opitz syndrome
โ Scribed by F.M. Santorelli; C. Dionisi Vici; A. Giannotti; E. Bertini; C. Rizzo; C. Patrono; A. Tessa; F. Piemonte; R. Carrozzo
- Book ID
- 119438875
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 290 KB
- Volume
- 144
- Category
- Article
- ISSN
- 0021-9150
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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
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