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Rare RNF213 variant in adolescent with moyamoya disease

INTRODUCTION. Moyamoya disease is a progressive steno-occlusive disease of the major intracranial arteries. Affected individuals are at risk for intracranial hemorrhagic or ischemic stroke, cognitive impairment, and developmental delays. Several susceptibility genes have been identified. The p.R4810...

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Detalles Bibliográficos
Autores principales: Cardoso, Ivana, Pinto, Mariana, Araújo, André, Vila-Real, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Viguera Editores (Evidenze Group) 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364026/
https://www.ncbi.nlm.nih.gov/pubmed/36843178
http://dx.doi.org/10.33588/rn.7605.2021392