Distribution of Cerebrovascular Phenotypes According to Variants of the <i>ENG</i> and <i>ACVRL1</i> Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

Distribution of Cerebrovascular Phenotypes According to Variants of the <i>ENG</i> and <i>ACVRL1</i> Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder caused, in more than 80% of cases, by mutations of either the endoglin (<i>ENG</i>) or the activin A receptor-like type 1 (<i>ACVRL1</i>) gene. Several hundred variants have been identified in these...

Full description

Bibliographic Details
Main Authors: Eleonora Gaetani, Elisabetta Peppucci, Fabiana Agostini, Luigi Di Martino, Emanuela Lucci Cordisco, Carmelo L. Sturiale, Alfredo Puca, Angelo Porfidia, Andrea Alexandre, Alessandro Pedicelli, Roberto Pola
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Journal of Clinical Medicine
Subjects:
hereditary hemorrhagic telangiectasia
cerebrovascular malformations
arteriovenous malformations
genetics
gene variants
<i>ENG</i>
Online Access:https://www.mdpi.com/2077-0383/11/10/2685

Internet

https://www.mdpi.com/2077-0383/11/10/2685

Similar Items