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Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.

Journal of medical genetics - 1 May 2023

Jelsig Anne Marie, Kjeldsen Anette, Christensen Lise Lotte, Bertelsen Birgitte, Karstensen John Gásdal, Brusgaard Klaus, Torring Pernille M

Abstract excerpt

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, HHT is caused by pathogenic germline variants (PVs) in SMAD4, and these patients often have additional symptoms of juvenile polyposis...

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Denmark
Intracranial Arteriovenous Malformations
Mutation
Smad4 Protein
Telangiectasia, Hereditary Hemorrhagic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36038259
DOI: 10.1136/jmg-2022-108766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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