Articles with "csnk2b mutations" as a keyword



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De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome

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Published in 2022 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2022.811092

Abstract: The Poirier–Bienvenu neurodevelopmental syndrome is an autosomal dominant disorder characterized by intellectual disability and epilepsy. The disease is caused by mutations in the CSNK2B gene, which encodes the beta subunit of casein kinase II, and… read more here.

Keywords: neurodevelopmental syndrome; poirier bienvenu; csnk2b mutations; bienvenu neurodevelopmental ... See more keywords