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hereditary hemorrhagic telangiectasia

 

Definition: a disease with onset usually after puberty, marked by multiple small telangiectases and dilated venules that develop slowly on the skin and mucous membranes; the face, lips, tongue, nasopharynx, and intestinal mucosa are frequent sites, and recurrent bleeding may occur; autosomal dominant inheritance, caused by mutation in the gene (ENG) encoding endoglin on chromosome 9q.

Synonym(s): Rendu-Osler-Weber syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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