Article
Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia.
Disease models & mechanisms - 1 Jan 2017
Kahn Benjamin M, Corman Tanya S, Lovelace Korah, Hong Mingi, Krauss Robert S, Epstein Douglas J
Abstract excerpt
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog...
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