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

被引：159

作者：

Chaouat, A

Coulet, F

Favre, C

Simonneau, G

Weitzenblum, E

Soubrier, F

Humbert, M

机构：

[1] CHU Hautepierre, Serv Pneumol, F-67098 Strasbourg, France

[2] Univ Paris Sud, Assistance Publ Hop Paris, Serv Pneumol & Reanimat Resp, UPRES EA2705,Hop Antoine Beclere, Clamart, France

来源：

THORAX | 2004年 / 59卷 / 05期

关键词：

D O I：

10.1136/thx.2003.11890

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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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收藏

页码：446 / 448

页数：3

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