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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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	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
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Frontiers Media S.A. 2022-06-01
Σειρά:	Frontiers in Molecular Neuroscience
Θέματα:	ARFGEF1 mutation spectrum data lake whole-exome sequencing neurodevelopmental delay
Διαθέσιμο Online:	https://www.frontiersin.org/articles/10.3389/fnmol.2022.862096/full
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