Mesh term Telangiectasia, Hereditary Hemorrhagic
Browse to parent terms:Hemostatic Disorders
Telangiectasis
Vascular Malformations
Description
An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.Search for this term in our Faculty Database
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