"Recent Advances in Hereditary Hemorrhagic Telangiectasia Pathogenesis and Therapies"
Alka Y,
Zahra Shabani,
Jasneet Kaur Dhaliwal
et al.
Abstract:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare and inherited vascular disorder, characterized by the development of arteriovenous malformations (AVMs) in various organs and telangiectasia (small AVM) in the mucocutaneous. The majority of HHT patients have haploinsufficiency of genes involved in the transforming growth factor-beta (TGFβ) signaling pathway, including endoglin (ENG), activin receptor-like kinase 1 (ALK1, also known as ACVRL1), or SMAD4. Active ang… Show more
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