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Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal dominant condition with incomplete penetrance...

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Detalles Bibliográficos
Autores principales: Benedetti, Valerio, Canzoneri, Rosalia, Perrelli, Andrea, Arduino, Carlo, Zonta, Andrea, Brusco, Alfredo, Retta, Saverio Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311989/
https://www.ncbi.nlm.nih.gov/pubmed/35883785
http://dx.doi.org/10.3390/antiox11071294