## 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
De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome
✍ Scribed by John S. Waye; Barry Eng; Murray A. Potter; Małgorzata J.M. Nowaczyk; Deborah McFadden; Sylvie Langlois
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 96 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol ⌬7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G → C transversion in the splice acce
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