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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Detalles Bibliográficos
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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428974/
https://www.ncbi.nlm.nih.gov/pubmed/28453519
http://dx.doi.org/10.1371/journal.pgen.1006746

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428974/
https://www.ncbi.nlm.nih.gov/pubmed/28453519
http://dx.doi.org/10.1371/journal.pgen.1006746

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