Hereditary haemorrhagic telangiectasia (HHT) can result in challenging anaemia and
thrombosis phenotypes. Clinical presentations of HHT vary for relatives with identical casual …

The abnormal vascular structures of hereditary hemorrhagic telangiectasia (HHT) often
cause severe anemia due to recurrent hemorrhage, but HHT causal genes do not predict the …

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia.
Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping …

Hereditary hemorrhagic telangiectasia (HHT) is mechanistically and therapeutically
challenging, not only because of the molecular and cellular perturbations that generate …

Severe hemorrhage and anemia in hereditary hemorrhagic telangiectasia (HHT) is a major
focus of drug development and repurposing. HHT is not a single disorder, but molecularly …

Objectives To test these 2 algorithms, and a third, newly designed HHTA, in an independent
population with available clinical records and thus identify people who might have …

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is characterized by the abnormal
development of blood vessels leading to the formation of mucocutaneous telangiectasias …

Background A disease severity score in hereditary hemorrhagic telangiectasia (HHT) would
be a useful tool for assessing burden of disease and for designing clinical trials. Here, we …

The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are
widely used by laboratories, including for variant curation of the hereditary hemorrhagic …

Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia that commonly results
in bleeding but with frequent indications for therapeutic anticoagulation. Our aims were to …