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Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy

Serine/threonine protein kinases are involved in axon formation and neuronal polarization and have recently been implicated in autism spectrum disorder (ASD) and neurodevelopmental disorders (NDD). Here, we focus on BRSK2, which encodes brain-specific serine/threonine protein kinase 2. Although prev...

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Detalles Bibliográficos
Autores principales: Hu, Yu, Li, Miao, Shen, Yanmei, Wang, Tianyun, Liu, Qiwei, Lu, Zhonghua, Wang, Hong, Luo, Xuerong, Yang, Lixin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476520/
https://www.ncbi.nlm.nih.gov/pubmed/37671287
http://dx.doi.org/10.3389/fpsyt.2023.1205204