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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Semaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous studies have suggested that SEMA5A could be a susce...

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Detalles Bibliográficos
Autores principales: Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867450/
https://www.ncbi.nlm.nih.gov/pubmed/26395558
http://dx.doi.org/10.1038/ejhg.2015.211