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

CSNK2B 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 of the Poirier-Bienv...

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Detalles Bibliográficos
Autores principales: Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d’Adamo, Adamo P., Musante, Luciana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957394/
https://www.ncbi.nlm.nih.gov/pubmed/36833176
http://dx.doi.org/10.3390/genes14020250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957394/
https://www.ncbi.nlm.nih.gov/pubmed/36833176
http://dx.doi.org/10.3390/genes14020250

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