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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Bibliografske podrobnosti

Principais autores:	Lu Xu, Youfeng Zhou, Xiaoyan Ren, Chenlu Xu, Rongna Ren, Xuke Yan, Xuelian Li, Huimin Yang, Xuebin Xu, Xiaotong Guo, Guoxia Sheng, Yi Hua, Zhefeng Yuan, Shugang Wang, Weiyue Gu, Dan Sun, Feng Gao
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2022-06-01
Serija:	Frontiers in Molecular Neuroscience
Teme:	ARFGEF1 mutation spectrum data lake whole-exome sequencing neurodevelopmental delay
Online dostop:	https://www.frontiersin.org/articles/10.3389/fnmol.2022.862096/full
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