Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that presents with telangiectases in skin and mucosae, and arteriovenous malformations (AVMs) in internal organs such as lungs, liver, and brain. Mutations in <i>ENG</i> (endoglin), <i>ACVRL1</...

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Bibliographic Details
Main Authors: Carmelo Bernabeu, Pinar Bayrak-Toydemir, Jamie McDonald, Michelle Letarte
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Journal of Clinical Medicine
Subjects:
hereditary hemorrhagic telangiectasia (HHT), second-hit
arteriovenous malformation (AVM)
endoglin
ALK1
Smad4
inflammation
Online Access:https://www.mdpi.com/2077-0383/9/11/3571

Internet

https://www.mdpi.com/2077-0383/9/11/3571

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