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

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 it has important roles in neuron development and sy...

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Detalles Bibliográficos
Autores principales: Yang, Qi, Zhang, Qinle, Yi, Shang, Qin, Zailong, Shen, Fei, Ou, Shang, Luo, Jingsi, He, Sheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965697/
https://www.ncbi.nlm.nih.gov/pubmed/35370893
http://dx.doi.org/10.3389/fneur.2022.811092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965697/
https://www.ncbi.nlm.nih.gov/pubmed/35370893
http://dx.doi.org/10.3389/fneur.2022.811092

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