Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder

Mono-allelic loss-of-function variants in ARFGEF1 have recently caused a developmental delay, intellectual disability, and epilepsy, with varying clinical expressivity. However, given the clinical heterogeneity and low-penetrance mutations of ARFGEF1-related neurodevelopmental disorder, the robustne...

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Detalles Bibliográficos
Autores principales: Xu, Lu, Zhou, Youfeng, Ren, Xiaoyan, Xu, Chenlu, Ren, Rongna, Yan, Xuke, Li, Xuelian, Yang, Huimin, Xu, Xuebin, Guo, Xiaotong, Sheng, Guoxia, Hua, Yi, Yuan, Zhefeng, Wang, Shugang, Gu, Weiyue, Sun, Dan, Gao, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248374/
https://www.ncbi.nlm.nih.gov/pubmed/35782386
http://dx.doi.org/10.3389/fnmol.2022.862096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248374/
https://www.ncbi.nlm.nih.gov/pubmed/35782386
http://dx.doi.org/10.3389/fnmol.2022.862096

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