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

R E Harrison, R Berger, S G Haworth, R Tulloh, C J Mache, N W Morrell, M A Aldred, R C Trembath

Research output: Contribution to journalArticlepeer-review

192 Citations (Scopus)

Abstract

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 growth factor-beta cell-signaling pathway in 18 children (age at presentation
Original languageEnglish
Pages (from-to)435 - 441
Number of pages7
JournalCirculation (Baltimore)
Volume111
Issue number4
DOIs
Publication statusPublished - 1 Feb 2005

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