The Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis

Abstract excerpt

were discovered in individuals with HHT, haploinsufficiency, a 50% reduction in the encoded protein, was proposed as the molecular mechanism of HHT. However, the focal and discrete nature of HHT-associated vascular malformations suggested to others that vascular malformation genesis requires an additional, local trigger. In this review, we discuss the evidence for the Knudsonian two-hit mutation mechanism of...

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• Tracheal and airway disorders
• Vascular Anomalies and Treatments
• Vascular Malformations and Hemangiomas