Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
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DOI: 10.3389/fnmol.2022.862096
Abstract: 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 robustness of the… read more here.
Keywords: neurodevelopmental disorder; arfgef1; expanding phenotypic; related neurodevelopmental ... See more keywords