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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...

Read the complete abstract on PubMed

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 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 1 Sept 2026. Prepared record publication-11484689-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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