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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Detalles Bibliográficos
Autores principales: Marto, João Pedro, Gil, Inês, Calado, Sofia, Viana-Baptista, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073657/
https://www.ncbi.nlm.nih.gov/pubmed/27790124
http://dx.doi.org/10.1159/000449281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073657/
https://www.ncbi.nlm.nih.gov/pubmed/27790124
http://dx.doi.org/10.1159/000449281

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