Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders

BACKGROUND: The calcium/calmodulin‐dependent serine protein kinase gene (CASK) is an essential gene in mammals, critical for neurodevelopment. The purpose of this study is to expand the understanding of the diagnosis of CASK‐linked disorders. MATERIALS/METHODS: From clinical and genetic mutational a...

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Detalles Bibliográficos
Autores principales: Yang, Kunfang, Lin, Longlong, Yuan, Fang, Li, Xiaoguang, Liu, Zhiping, Lan, Xiaoping, Wang, Yilin, Ren, Yun, Li, Jiaoyan, Chen, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651610/
https://www.ncbi.nlm.nih.gov/pubmed/36168867
http://dx.doi.org/10.1002/mgg3.2065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651610/
https://www.ncbi.nlm.nih.gov/pubmed/36168867
http://dx.doi.org/10.1002/mgg3.2065

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