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A novel 7-DHCR mutation in a lebanese child with Smith-Lemli-Opitz syndrome

โœ Scribed by F.M. Santorelli; C. Dionisi Vici; A. Giannotti; E. Bertini; C. Rizzo; C. Patrono; A. Tessa; F. Piemonte; R. Carrozzo


Book ID
119438875
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
290 KB
Volume
144
Category
Article
ISSN
0021-9150

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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mu