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Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.

Human molecular genetics - 1 Jul 2007

Fernandez-L Africa, Fernandez-Lopez Africa, Garrido-Martin Eva M, Sanz-Rodriguez Francisco, Pericacho Miguel, Rodriguez-Barbero Alicia, Eleno Nelida, Lopez-Novoa Jose M, Düwell Anette, Vega Miguel A, Bernabeu Carmelo, Botella Luisa M

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an autosomal dominant vascular disorder characterized by telangiectases and internal arteriovenous malformations. It is caused by mutations in elements of the transforming growth factor-beta (TGF-beta) receptor complex: endoglin, a co-receptor, responsible for HHT1, or ALK1 (activin receptor-like kinase 1), a type I receptor leading to...

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PMID: 17420163
DOI: 10.1093/hmg/ddm069

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