Ontology highlight
ABSTRACT:
SUBMITTER: Scimone C
PROVIDER: S-EPMC7352422 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Scimone Concetta C Granata Francesca F Longo Marcello M Mormina Enricomaria E Turiaco Cristina C Caragliano Antonio A AA Donato Luigi L Sidoti Antonina A D'Angelo Rosalia R
International journal of molecular sciences 20200617 12
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 phenotypes. However, the low incidence of inherited cases makes the genetic bases of the disease unclear. To increase this knowledge, we performed a whole exome sequencing on five patients, on DNA pu ...[more]