Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.
case_report · Level V
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- Record sourced from PubMed, PMID 15115879.
- Also identified by PMC identifier 1746994.
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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.
Medical subject headings
- Dexfenfluramine
- Germ-Line Mutation
- Hypertension, Pulmonary
- Serotonin Receptor Agonists
- Telangiectasia, Hereditary Hemorrhagic
- Vascular Cell Adhesion Molecule-1