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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
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Original Articles
Acesso em linha: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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