Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine, Published online: 10 June 2021; doi:10.1038/s41436-021-01218-6Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Source: Genetics in Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Quentin Thomas Thierry Gautier Dana Marafi Thomas Besnard Marjolaine Willems S ébastien Moutton Bertand Isidor Benjamin Cogn é Sol ène Conrad Romano Tenconi Maria Iascone Arthur Sorlin Alice Masurel Tabib Dabir Adam Jackson Siddharth Banka Julian Delan Source Type: research