Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the three loci to date linked to familial CCM dev...

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Detalles Bibliográficos
Autores principales: Scimone, Concetta, Donato, Luigi, Katsarou, Zoe, Bostantjopoulou, Sevasti, D'Angelo, Rosalia, Sidoti, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6246743/
https://www.ncbi.nlm.nih.gov/pubmed/30487773
http://dx.doi.org/10.3389/fneur.2018.00953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6246743/
https://www.ncbi.nlm.nih.gov/pubmed/30487773
http://dx.doi.org/10.3389/fneur.2018.00953

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