CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable genetic heterogeneity and clinical variability. In...

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Detalles Bibliográficos
Main Authors: Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, René J. M., Hoenderop, Joost G. J.
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2014
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3974678/
https://ncbi.nlm.nih.gov/pubmed/24699222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004267
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