Ontology highlight
ABSTRACT:
SUBMITTER: Kritharis A
PROVIDER: S-EPMC6119150 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Kritharis Athena A Al-Samkari Hanny H Kuter David J DJ
Haematologica 20180524 9
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaçao criteria. Genetic mutations that have been identified include <i>ENG</i>, <i>ACVRL1/ALK1</i>, and <i>MADH4/SMAD4</i>, among others. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many ...[more]