Related Experiment Video
Updated: Aug 13, 2026

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Hereditary hemorrhagic telangiectasia
1Departmentof Dermatology, New York University School of Medicine, USA.
Abstract:
A 45-year-old man with hereditary hemorrhagic telangiectasia (HHT) presented with numerous mucocutaneous telangiectases, recurrent nosebleeds, and several first degree relatives with similar symptoms. HHT has been linked to mutations in the genes endoglin and activin receptor-like kinase-1 (ALK-1), which are located on chromosome 9q33-34 and 12q13, respectively. The resultant proteins mediate binding and signaling of transforming growth factor-beta. The clinical features, molecular basis, and management of HHT are reviewed.
More Related Videos
Related Concept Videos
Hemorrhagic Stroke l: Introduction
Esophageal Varices-I: Introduction
Esophageal Varices-II: Clinical Features and Management
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...
Hemorrhagic Stroke ll: Pathophysiology
Genetic Lingo
Disorders of Hemostasis
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.

