High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions...

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主要な著者: Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute
フォーマット: Artigo
言語:Inglês
出版事項: Wiley Periodicals, Inc. 2014
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Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3960060/
https://ncbi.nlm.nih.gov/pubmed/24689081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.60
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