Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

Mid-hindbrain malformations can occur during embryogenesis through a disturbance of transient and localized gene expression patterns within these distinct brain structures. Rho guanine nucleotide exchange factor (ARHGEF) family members are key for controlling the spatiotemporal activation of Rho GTP...

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Publicado en:PLoS Genet
Autores principales: Ravindran, Ethiraj, Hu, Hao, Yuzwa, Scott A., Hernandez-Miranda, Luis R., Kraemer, Nadine, Ninnemann, Olaf, Musante, Luciana, Boltshauser, Eugen, Schindler, Detlev, Hübner, Angela, Reinecker, Hans-Christian, Ropers, Hans-Hilger, Birchmeier, Carmen, Miller, Freda D., Wienker, Thomas F., Hübner, Christoph, Kaindl, Angela M.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5428974/
https://ncbi.nlm.nih.gov/pubmed/28453519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006746
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