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Endoglin Germline Mutation in a Patient with Hereditary Haemorrhagic Telangiectasia and Dexfenfluramine Associated Pulmonary Arterial Hypertension

Overview
Journal Thorax
Date 2004 Apr 30
PMID 15115879
Citations 76
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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-beta signalling pathway in this condition.

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