Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension
Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension
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DOI：
10.1136/thx.2003.11890
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发表时间：
2004-05-01
期刊：
影响因子：
10
通讯作者：
Humbert, M
中科院分区：
文献类型：
--
作者：
Chaouat, A;Coulet, F;Humbert, M
右芬氟拉明相关的肺动脉高压发生在与内皮糖蛋白基因内的突变有关的遗传性出血性毛细血管扩张症患者。本报告强调了TGF-β信号通路在这种情况下的关键作用。
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.