학술논문
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Document Type
Article
Author
Tessarech, M.; Guichet, A.; Bris, C.; Procaccio, V.; Bonneau, D.; Colin, E.; Le Mao, M.; Díaz, R.M.; Lenaers, G.; Khiati, S.; Friocourt, G.; Ferec, C.; Marguet, F.; Lecointre, M.; Gonzalez, B.; Laquerriere, A.; Mignot, C.; Keren, B.; Héron, B.; De Bie, C.; Van Gassen, K.; Loisel, D.; Delorme, B.; Syrbe, S.; Klabunde-Cherwon, A.; Jamra, R.A.; Wegler, M.; Callewaert, B.; Dheedene, A.; Zidane-Marinnes, M.; Van Bogaert, P.; Biquard, F.; Marcorelles, P.; Vitobello, A.
Source
In: Genetics in Medicine . (Genetics in Medicine, May 2024, 26(5))
Subject
Language
English
ISSN
15300366
10983600
10983600