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Article

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia.

Journal of internal medicine - 1 Oct 2005

Kjeldsen A D, Møller T R, Brusgaard K, Vase P, Andersen P E

Abstract excerpt

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease, characterized by a wide variety of clinical manifestations, including epistaxis, gastrointestinal (GI) bleeding, pulmonary arteriovenous malformations (PAVMs) and neurological symptoms. HHT is a genetically heterogeneous disorder involving at least two loci; HHT 1 mapping to chromosome 9 q 34.1 (ENG) and HHT 2 mapping to...

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Source

Identifiers

PMID: 16164574
DOI: 10.1111/j.1365-2796.2005.01555.x

Genes

ALK
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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