## Abstract The Smith‐Lemli‐Opitz syndrome (SLOS), or RSH syndrome, is a well‐characterized multiple congenital anomalies/mental retardation syndrome. The phenotype has been redefined to include mildly affected individuals with minor anomalies and developmental delay, and severe malformations with
Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome
✍ Scribed by Evans, Timothy ;Poh, Alisa ;Webb, Charlotte ;Wainwright, Brandon ;Wicking, Carol ;Glass, Ian ;Carey, William F. ;Fietz, Michael
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 124 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0148-7299
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📜 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
Smith±Lemli±Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the ®nal enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol D 7 -reductase (DHCR7). We diagnosed SLOS i