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A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection

BACKGROUND: Cerebral vasculopathies frequently lead to severe medical conditions such as stroke or intracranial hemorrhage and have a broad range of possible etiologies that require different therapeutic regimens. However, vasculopathies sometimes present with characteristic angiographic findings, t...

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Detalles Bibliográficos
Autores principales: Focke, Jan K., Kraemer, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433546/
https://www.ncbi.nlm.nih.gov/pubmed/37587538
http://dx.doi.org/10.1186/s42466-023-00268-2