Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome
✍ Scribed by D. Babovic-Vuksanovic; R. M. Jacobson; N. M. Lindor; C. R. Weiler
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 128 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
## Abstract Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7‐dehydrocholesterol Δ7‐reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholest