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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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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