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CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons
Loss-of-function (LOF) mutations in CASK cause severe developmental phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked intellectual disability, and autism. Unraveling the pathological mechanisms of CASK-related disorders has been challenging owing to limited human ce...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9574418/ https://www.ncbi.nlm.nih.gov/pubmed/36262316 http://dx.doi.org/10.1016/j.isci.2022.105187 |