Title : [Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options].

Pub. Date : 2009 Oct

PMID : 19856245






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The disease is caused by a defect in cholesterol synthesis resulting in a reduced or absent activity of the enzyme 7-dehydrocholesterol reductase (DHCR7). Cholesterol 7-dehydrocholesterol reductase Homo sapiens