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


P ulmonary arterial hypertension (PAH) is defined as a group of diseases characterised by a progressive increase in pulmonary vascular resistance leading to right heart failure and ultimately to death. Familial cases segregate as an autosomal dominant trait with low disease gene penetrance. Mutations within the bone morphogenetic protein receptor type II… (More)


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