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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Authors :
Genetica Genetica Klinische Genetica Genetica Sectie Genoomdiagnostiek Child Health Tessarech, Marine Friocourt, Gaëlle Marguet, Florent Lecointre, Maryline Le Mao, Morgane Díaz, Rodrigo Muñoz Mignot, Cyril Keren, Boris Héron, Bénédicte De Bie, Charlotte Van Gassen, Koen Loisel, Didier Delorme, Benoit Syrbe, Steffen Klabunde-Cherwon, Annick Jamra, Rami Abou Wegler, Meret Callewaert, Bert Dheedene, Annelies Zidane-Marinnes, Merzouka Guichet, Agnès Bris, Céline Van Bogaert, Patrick Biquard, Florence Lenaers, Guy Marcorelles, Pascale Ferec, Claude Gonzalez, Bruno Procaccio, Vincent Vitobello, Antonio Bonneau, Dominique Laquerriere, Annie Khiati, Salim Colin, Estelle Genetica Genetica Klinische Genetica Genetica Sectie Genoomdiagnostiek Child Health Tessarech, Marine Friocourt, Gaëlle Marguet, Florent Lecointre, Maryline Le Mao, Morgane Díaz, Rodrigo Muñoz Mignot, Cyril Keren, Boris Héron, Bénédicte De Bie, Charlotte Van Gassen, Koen Loisel, Didier Delorme, Benoit Syrbe, Steffen Klabunde-Cherwon, Annick Jamra, Rami Abou Wegler, Meret Callewaert, Bert Dheedene, Annelies Zidane-Marinnes, Merzouka Guichet, Agnès Bris, Céline Van Bogaert, Patrick Biquard, Florence Lenaers, Guy Marcorelles, Pascale Ferec, Claude Gonzalez, Bruno Procaccio, Vincent Vitobello, Antonio Bonneau, Dominique Laquerriere, Annie Khiati, Salim Colin, Estelle
Publication Year :
2024
Details
Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1453479604
Document Type :
Electronic Resource