Article
Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2011
McDonald Jamie, Bayrak-Toydemir Pinar, Pyeritz Reed E
Abstract excerpt
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a disorder of development of the vasculature characterized by telangiectases and arteriovenous malformations in specific locations. It is one of most common monogenic disorders, but affected individuals are frequently not diagnosed. The most common features of the disorder, nosebleeds, and telangiectases on the lips, hands, and oral mucosa are...
Topics
- Activin Receptors, Type II
- Antigens, CD
- Endoglin
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Mutation
- Receptors, Cell Surface
- Telangiectasia, Hereditary Hemorrhagic