Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic variants in either CCM1 (KRIT1), CCM2 or CCM3...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Much, Christiane D., Schwefel, Konrad, Skowronek, Dariush, Shoubash, Loay, von Podewils, Felix, Elbracht, Miriam, Spiegler, Stefanie, Kurth, Ingo, Flöel, Agnes, Schroeder, Henry W. S., Felbor, Ute, Rath, Matthias
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Neurology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6879547/
https://ncbi.nlm.nih.gov/pubmed/31824402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.01219
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