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Article

Abnormal sterol metabolism in holoprosencephaly

26 Jan 2010

Abstract excerpt

Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans. The HPE phenotype is extremely variable and the etiology is heterogeneous. Among a variety of embryological toxins that can induce HPE, inhibitors, and other pertubations of cholesterol biosynthesis have been shown to be important factors, most likely because cholesterol is required in the Sonic hedgehog...

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PMID: 20104605
DOI: 10.1002/ajmg.c.30243

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