Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

BACKGROUND: Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1,CCM2, and...

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Publicado en:Mol Genet Genomic Med
Autores principales: Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes, Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll, Barbara, Gilberg, Eberhard, Kaderali, Lars, Felbor, Ute
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2016
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5241208/
https://ncbi.nlm.nih.gov/pubmed/28116327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.256
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