Ontology highlight
ABSTRACT:
SUBMITTER: Fernandez-L A
PROVIDER: S-EPMC1435660 | biostudies-literature | 2006 Mar
REPOSITORIES: biostudies-literature
Fernández-L Africa A Sanz-Rodriguez Francisco F Blanco Francisco J FJ Bernabéu Carmelo C Botella Luisa M LM
Clinical medicine & research 20060301 1
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 lung, brain or liver. Endoglin and ALK1 proteins are specific endothelial receptors of the transforming growth factor (TGF)-beta superfamily that are essential for vascular integrity. Genetic studies in ...[more]