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Neurological Involvement in the Smith-Lemli-Opitz Syndrome: Clinical and Neuropathological Findings

✍ Scribed by Carlos A. Garcia; Paul A. McGarry; Michel Voirol; Caroline Duncan

Book ID
115262504
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
724 KB
Volume
15
Category
Article
ISSN
0012-1622

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Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-⌬ 7 -reductase and resultant cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation. We report on three related patients (two brot