Smith-Lemli-Opitz-Syndrom
✍ Scribed by Haas, D. ;Bittigau, P. ;Hübner, C. ;Hoffmann, G. F.
- Publisher
- Springer
- Year
- 1997
- Tongue
- German
- Weight
- 186 KB
- Volume
- 145
- Category
- Article
- ISSN
- 0026-9298
No coin nor oath required. For personal study only.
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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
Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations of 7-dehydrocholesterol, the immediate biosyntheti