Splicing Interruption by Intron Variants in CSNK2B Causes Poirier–Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype–Phenotype Correlations

CSNK2B has recently been identified as the causative gene for Poirier–Bienvenu neurodevelopmental syndrome (POBINDS). POBINDS is a rare neurodevelopmental disorder characterized by early-onset epilepsy, developmental delay, hypotonia, and dysmorphism. Limited by the scarcity of patients, the genotyp...

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Detalles Bibliográficos
Autores principales: Zhang, Wen, Ye, Fanghua, Chen, Shimeng, Peng, Jing, Pang, Nan, Yin, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9237577/
https://www.ncbi.nlm.nih.gov/pubmed/35774559
http://dx.doi.org/10.3389/fnins.2022.892768

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9237577/
https://www.ncbi.nlm.nih.gov/pubmed/35774559
http://dx.doi.org/10.3389/fnins.2022.892768

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