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Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation
INTRODUCTION: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM...
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| Veröffentlicht in: | Case Rep Neurol |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
S. Karger AG
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5073657/ https://ncbi.nlm.nih.gov/pubmed/27790124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000449281 |
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