Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
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DOI: 10.3390/genes13020276
Abstract: Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include… read more here.
Keywords: mutations csnk2b; poirier bienvenu; poirier; expanding phenotype ... See more keywords