Associated Papers
Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder.
Xu L et al.
Frontiers in Molecular Neuroscience, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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