Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of <i>CSNK2B</i>-Associated Disorders

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of <i>CSNK2B</i>-Associated Disorders

<i>CSNK2B</i> encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this gene have been identified as the cause o...

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Bibliographic Details
Main Authors: Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo P. d’Adamo, Luciana Musante
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
WES
POBINDS
mRNA and protein instability
CK2beta haploinsufficiency
IDCS
KEN like-box
Online Access:https://www.mdpi.com/2073-4425/14/2/250

Internet

https://www.mdpi.com/2073-4425/14/2/250

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