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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Bibliografski detalji
Izdano u:PLoS Genet
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2017
Teme:
Research Article
Online pristup: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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