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hereditary haemorrhagic telangiectasia


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A set of vascular dysplasias (Osler–Rendu–Weber syndrome) characterized by thinning of blood vessel walls and thus a predisposition to bleeding (nosebleeds are a common symptom). Malformations (telangiectasia) in the arteriovenous system occur in skin, mucosa, and viscera. Type 1 (HHT1) is an autosomal dominant disorder caused by mutation in the gene encoding endoglin on chromosome 9, HHT2 is caused by mutations in the activin receptor-like kinase-1 gene on chromosome 12, HHT3 maps to 5q31 and HHT4 to 7p14.

Subjects: Medicine and Health.


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