Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report

Arteriovenous malformations of the brain (bAVMs) are plexuses of pathological arteries and veins that lack a normal capillary system between them. Intracranial hemorrhage (hemorrhagic stroke) is the most frequent clinical manifestation of AVM, leading to lethal outcomes that are especially high amon...

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Detalles Bibliográficos
Autores principales: Mukhtarova, Kymbat, Zholdybayeva, Elena, Kairov, Ulykbek, Akhmetollayev, Ilyas, Nurimanov, Chingiz, Kulmirzayev, Marat, Makhambetov, Yerbol, Ramankulov, Yerlan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601721/
https://www.ncbi.nlm.nih.gov/pubmed/36292575
http://dx.doi.org/10.3390/genes13101689

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