Article
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
Brain : a journal of neurology - 1 Apr 2018
Vivanti Alexandre, Ozanne Augustin, Grondin Cynthia, Saliou Guillaume, Quevarec Loic, Maurey Helène, Aubourg Patrick, Benachi Alexandra, Gut Marta, Gut Ivo, Martinovic Jelena, Sénat Marie Victoire, Tawk Marcel, Melki Judith
Abstract excerpt
See Meschia (doi:10.1093/brain/awy066) for a scientific commentary on this article.Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.