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Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains un...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:PLoS One
Hauptverfasser: González-Morón, Dolores, Vishnopolska, Sebastián, Consalvo, Damián, Medina, Nancy, Marti, Marcelo, Córdoba, Marta, Vazquez-Dusefante, Cecilia, Claverie, Santiago, Rodríguez-Quiroga, Sergio Alejandro, Vega, Patricia, Silva, Walter, Kochen, Silvia, Kauffman, Marcelo Andrés
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2017
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5617183/
https://ncbi.nlm.nih.gov/pubmed/28953922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0185103
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