Ontology highlight
ABSTRACT:
SUBMITTER: Albinana V
PROVIDER: S-EPMC7356836 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Albiñana Virginia V Cuesta Angel M AM Rojas-P Isabel de I Gallardo-Vara Eunate E Recio-Poveda Lucía L Bernabéu Carmelo C Botella Luisa María LM
Journal of clinical medicine 20200606 6
The diagnosis of hereditary hemorrhagic telangiectasia (HHT) is based on the Curaçao criteria: epistaxis, telangiectases, arteriovenous malformations in internal organs, and family history. Genetically speaking, more than 90% of HHT patients show mutations in <i>ENG</i> or <i>ACVRL1/ALK1</i> genes, both belonging to the TGF-β/BMP9 signaling pathway. Despite clear knowledge of the symptoms and genes of the disease, we still lack a definite cure for HHT, having just palliative measures and pharmac ...[more]