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Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
RATIONALE: Cerebral cavernous malformation (CCM) of the familial type is caused by abnormalities in the CCM1, CCM2, and CCM3 genes. These 3 proteins forming a complex associate with the maintenance of vascular endothelial cell-cell junctions. Dysfunction of these proteins results in the development...
Autores principales: | Ishii, Kazuhiro, Tozaka, Naoki, Tsutsumi, Satoshi, Muroi, Ai, Tamaoka, Akira |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373609/ https://www.ncbi.nlm.nih.gov/pubmed/32702807 http://dx.doi.org/10.1097/MD.0000000000019800 |
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