Title : Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report.

Pub. Date : 2008 Dec

PMID : 19886368






1 Functional Relationships(s)
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1 SLOS is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol delta7 reductase (7-DHC reductase), the catalyst involved in the final step of cholesterol biosynthesis, with the consequence of an increased serum levels of 7-DHC and generalised cholesterol deficiency. Cholesterol 7-dehydrocholesterol reductase Homo sapiens