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...

Full description

Bibliographic Details

Published in:	JCI Insight
Main Authors:	Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi Takagi
Format:	Article
Language:	English
Published:	American Society for Clinical investigation 2025-06-01
Subjects:	Development Vascular biology
Online Access:	https://doi.org/10.1172/jci.insight.190094