Literature DB >> 15115879

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

A Chaouat1, F Coulet, C Favre, G Simonneau, E Weitzenblum, F Soubrier, M Humbert.   

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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Year:  2004        PMID: 15115879      PMCID: PMC1746994          DOI: 10.1136/thx.2003.11890

Source DB:  PubMed          Journal:  Thorax        ISSN: 0040-6376            Impact factor:   9.139


  64 in total

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6.  Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers.

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