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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

BACKGROUND: Using mouse genetic studies and systematic assessments of brain neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain defects at the autism-associated 16p11.2 locus. RESULTS: We show that multiple genes mapping to this region interact to regulate brain ana...

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Detalles Bibliográficos
Autores principales: Kretz, Perrine F., Wagner, Christel, Mikhaleva, Anna, Montillot, Charlotte, Hugel, Sylvain, Morella, Ilaria, Kannan, Meghna, Fischer, Marie-Christine, Milhau, Maxence, Yalcin, Ipek, Brambilla, Riccardo, Selloum, Mohammed, Herault, Yann, Reymond, Alexandre, Collins, Stephan C., Yalcin, Binnaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10647150/
https://www.ncbi.nlm.nih.gov/pubmed/37968726
http://dx.doi.org/10.1186/s13059-023-03092-8