Hereditary Hemorrhagic Telangiectasia, a Vascular Dysplasia Affecting the TGF-β Signaling Pathway

Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia. Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous malformations in some internal organs such as the lu...

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Detalhes bibliográficos
Main Authors: Fernández-L, Africa, Sanz-Rodriguez, Francisco, Blanco, Francisco J., Bernabéu, Carmelo, Botella, Luisa M.
Formato: Artigo
Idioma:Inglês
Publicado em: © 2006. Clinical Medicine & Research 2006
Assuntos:
Literature Reviews
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1435660/
https://ncbi.nlm.nih.gov/pubmed/16595794
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