학술논문
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Document Type
Article
Author
Thomas, Q.; Moutton, S.; Sorlin, A.; Masurel, A.; Delanne, J.; Chevarin, M.; Nguyen, S.; Mau-Them, F.T.; Duffourd, Y.; Garret, P.; Bruel, A.-L.; Callier, P.; Marle, N.; Denomme-Pichon, A.-S.; Duplomb, L.; Philippe, C.; Thauvin-Robinet, C.; Faivre, L.; Vitobello, A.; Gautier, T.; Govin, J.; Marafi, D.; Lupski, J.R.; Besnard, T.; Isidor, B.; Cogné, B.; Conrad, S.; Willems, M.; Tenconi, R.; Iascone, M.; Dabir, T.; Jackson, A.; Banka, S.; Saadi, N.W.; Alkuraya, F.S.; Zahrani, F.A.; Agrawal, P.B.; England, E.; Madden, J.A.; Posey, J.E.; Burglen, L.; Rodriguez, D.
Source
In: Genetics in Medicine . (Genetics in Medicine, October 2021, 23(10):1901-1911)
Subject
Language
English
ISSN
15300366
10983600
10983600