Title : Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

Pub. Date : 2016 Apr

PMID : 26998835






1 Functional Relationships(s)
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1 Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, which impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. Cholesterol 7-dehydrocholesterol reductase Homo sapiens