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

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-ß signalling pathway in this condition.

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chaouat, A, Coulet, F, Favre, C, Simonneau, G, Weitzenblum, E, Soubrier, F, Humbert, M
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2004
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1746994/
https://ncbi.nlm.nih.gov/pubmed/15115879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thx.2003.11890
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