De novo variant in RING finger protein 213 causes systemic vasculopathy

Systemic arterial stenosis, including moyamoya disease (MMD) and middle aortic syndrome (MAS), is a rare condition of unclear etiology. MMD is a cerebral angiopathy, and MAS affects the abdominal and thoracic aorta. Although some genetic associations with MAS have been identified, the causes remain...

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Detalhes bibliográficos
Main Authors: Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi Takagi
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical investigation 2025-06-01
Colecção:JCI Insight
Assuntos:
Development
Vascular biology
Acesso em linha:https://doi.org/10.1172/jci.insight.190094
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