KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants

Cerebral cavernous malformations (CCMs) are vascular malformations that may result in headaches, seizures, focal neurological deficits, and hemorrhage. CCMs occur sporadically (80%) or in familial form (20%), with autosomal dominant inheritance. Among the three CCM-related genes, mutations in KRIT1...

Descripción completa

Detalles Bibliográficos
Autores principales: Ricci, Claudia, Cerase, Alfonso, Riolo, Giulia, Manasse, Giuditta, Battistini, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421287/
https://www.ncbi.nlm.nih.gov/pubmed/33651268
http://dx.doi.org/10.1007/s12031-021-01814-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421287/
https://www.ncbi.nlm.nih.gov/pubmed/33651268
http://dx.doi.org/10.1007/s12031-021-01814-w

Ejemplares similares