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

BackgroundGenotype–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 an...

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Principais autores: Miriam Kessi, Baiyu Chen, Nan Pang, Lifen Yang, Jing Peng, Fang He, Fei Yin
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2023-07-01
coleção:Frontiers in Molecular Neuroscience
Assuntos:
CACNA1A
genotype–phenotype correlations
global developmental delay
intellectual disability
epilepsy
autism spectrum disorder
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1222321/full
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