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Article

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

Circulation - 1 Feb 2005

Harrison Rachel E, Berger Rolf, Haworth Sheila G, Tulloh Robert, Mache Christoph J, Morrell Nicholas W, Aldred Micheala A, Trembath Richard C

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1. Presentation in early life may be associated with congenital heart disease but frequently is idiopathic. METHODS AND RESULTS: We performed mutation analysis in genes encoding receptor members of the transforming...

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Source

Identifiers

PMID: 15687131
DOI: 10.1161/01.CIR.0000153798.78540.87

Genes

PAH
ALK
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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