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Article

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

The New England journal of medicine - 2 Aug 2001

Trembath R C, Thomson J R, Machado R D, Morgan N V, Atkinson C, Winship I, Simonneau G, Galie N, Loyd J E, Humbert M, Nichols W C, Morrell N W, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L

Abstract excerpt

BACKGROUND: Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor beta (TGF-beta) superfamily of receptors. Because patients with hereditary hemorrhagic telangiectasia may have lung disease that is indistinguishable from primary pulmonary hypertension, we investigated the genetic basis of...

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Topics

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypertension, Pulmonary

Share to Mutation, Missense

Share to Protein Serine-Threonine Kinases

Share to Telangiectasia, Hereditary Hemorrhagic

Share to Transforming Growth Factor beta

Source

Identifiers

PMID: 11484689
DOI: 10.1056/NEJM200108023450503

Genes

BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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