Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
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DOI: 10.1136/jmg-2022-108766
Abstract: Background and aims Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by recurrent epistaxis, telangiectatic lesions in the skin and mucosal membranes, and arteriovenous malformations (AVMs) in various organs. In 3%–5% of patients,… read more here.
Keywords: hereditary haemorrhagic; danish patients; nationwide study; hht ... See more keywords