Article
New genetic drivers in hemorrhagic hereditary telangiectasia.
European journal of internal medicine - 1 Jan 2024
Cerdà Pau, Castillo Sandra D, Aguilera Cinthia, Iriarte Adriana, Rocamora José Luis, Larrinaga Ane M, Viñals Francesc, Graupera Mariona, Riera-Mestre Antoni
Abstract excerpt
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in around 90% of the patients; also 2% of patients harbor pathogenic variants at SMAD4 and GDF2. Importantly, the genetic cause of 8% of patients with clinical HHT remains unknown....
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