Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis

Brain arteriovenous malformation (bAVM) is a congenital defect affecting brain microvasculature, characterized by a direct shunt from arterioles to venules. Germline mutations in several genes related to transforming growth factor beta (TGF-β)/BMP signaling are linked to both sporadic and hereditary...

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Detalles Bibliográficos
Autores principales: Scimone, Concetta, Granata, Francesca, Longo, Marcello, Mormina, Enricomaria, Turiaco, Cristina, Caragliano, Antonio A., Donato, Luigi, Sidoti, Antonina, D’Angelo, Rosalia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352422/
https://www.ncbi.nlm.nih.gov/pubmed/32560555
http://dx.doi.org/10.3390/ijms21124321

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352422/
https://www.ncbi.nlm.nih.gov/pubmed/32560555
http://dx.doi.org/10.3390/ijms21124321

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