Article
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
Neuropharmacology - 1 Dec 2013
Kozoriz Michael G, Lai Simon, Vega José L, Sáez Juan C, Sin Wun Chey, Bechberger John F, Naus Christian C
Abstract excerpt
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disease that results in visible developmental anomalies of the limbs, face, eyes and teeth. Recently analysis of human connexin43 (Cx43) DNA sequences has revealed a number of different missense, duplication and frame shift mutations resulting in this phenotype. A mouse model of this disorder has been created with a missense point mutation of the...
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