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Article

A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1.

Thorax - 1 Aug 2000

Wallace G M, Shovlin C L

Abstract excerpt

BACKGROUND: Pulmonary arteriovenous malformations (PAVMs) occur in over 25% of patients with the autosomal dominant disorder hereditary haemorrhagic telangiectasia (HHT). Mutations in two genes, endoglin and ALK-1, are known to cause HHT. Each encodes a protein expressed on vascular endothelial cells and involved in signalling by members of the transforming growth factor (TGF)-beta superfamily. To date, PAVMs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Serine-Threonine Kinases

Share to Receptors, Cell Surface

Share to Telangiectasia, Hereditary Hemorrhagic

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Source

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Identifiers

PMID: 10899246
DOI: 10.1136/thorax.55.8.685
PMCID: PMC1745830

Genes

ALK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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