A Novel Splicing Mutation in the <i>ACVRL1/ALK1</i> Gene as a Cause of HHT2

A Novel Splicing Mutation in the <i>ACVRL1/ALK1</i> Gene as a Cause of HHT2

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been described in the ENG (HHT1) or ACVRL1/ALK1 (HHT2) g...

Full description

Bibliographic Details
Main Authors: Suriel Errasti Díaz, Mercedes Peñalva, Lucía Recio-Poveda, Susana Vilches, Juan Casado-Vela, Julián Pérez Pérez, Luisa María Botella, Virginia Albiñana, Angel M. Cuesta
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Journal of Clinical Medicine
Subjects:
<i>ACVRL1/ALK1</i>
hereditary hemorrhagic telangiectasia
splicing mutation
Osler-Weber-Rendu disease
Online Access:https://www.mdpi.com/2077-0383/11/11/3053

Internet

https://www.mdpi.com/2077-0383/11/11/3053

Similar Items