Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome
✍ Scribed by V. Bzduch; D. Behulova; L. Kozak
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 180 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0141-8955
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📜 SIMILAR VOLUMES
The Smith-Lemli-Opitz syndrome is a common birth defect syndrome caused by a deficiency of 7-dehydrocholesterol ⌬ 7 -reductase, an essential enzyme in the biosynthesis of cholesterol. The syndrome can usually be diagnosed easily from the plasma markers of markedly elevated 7-dehydrocholesterol and r
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition involving craniofacial and central nervous system malformations with occasional holoprosencephaly (HPE). It is caused by a defect in the 7-dehydrocholesterol (7-DHC) reductase, the enzyme catalyzing the last step of cholestero