The genotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews

BACKGROUND: Genotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders such as global developmental delay (GDD)/intellectual disability (ID), epileptic encephalopathy (EE), and autism spectrum disorder (ASD) are unknown. We aimed to summarize genotype–phenotype correlations...

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Detalles Bibliográficos
Autores principales: Kessi, Miriam, Chen, Baiyu, Pang, Nan, Yang, Lifen, Peng, Jing, He, Fang, Yin, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406136/
https://www.ncbi.nlm.nih.gov/pubmed/37555011
http://dx.doi.org/10.3389/fnmol.2023.1222321

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406136/
https://www.ncbi.nlm.nih.gov/pubmed/37555011
http://dx.doi.org/10.3389/fnmol.2023.1222321

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