Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension
Open Access
- 1 May 2004
- Vol. 59 (5) , 446-448
- https://doi.org/10.1136/thx.2003.11890
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-β signalling pathway in this condition.Keywords
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