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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Vydáno v:Front Neurol
Hlavní autoři: Scimone, Concetta, Donato, Luigi, Katsarou, Zoe, Bostantjopoulou, Sevasti, D'Angelo, Rosalia, Sidoti, Antonina
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018
Témata:
Neurology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6246743/
https://ncbi.nlm.nih.gov/pubmed/30487773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00953
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