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. 2004 May;59(5):446–448. doi: 10.1136/thx.2003.11890

Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

A Chaouat 1, F Coulet 1, C Favre 1, G Simonneau 1, E Weitzenblum 1, F Soubrier 1, M Humbert 1
PMCID: PMC1746994  PMID: 15115879

Abstract

Dexfenfluramine associated pulmonary arterial hypertension occurring in a patient with hereditary haemorrhagic telangiectasia related to a mutation within the endoglin gene is described. This report highlights the critical role of the TGF-ß signalling pathway in this condition.

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