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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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2014
Teme:
Research Article
Online pristup: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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