A Kritharis, H Al-Samkari, DJ Kuter - Haematologica, 2018 - ncbi.nlm.nih.gov
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation …
ME Faughnan, JJ Mager, SW Hetts… - Annals of internal …, 2020 - acpjournals.org
Description: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of …
K Benjamin, MK Vernon, DL Patrick, E Perfetto… - Value in Health, 2017 - Elsevier
Abstract Background Rare diseases (RDs) affect a small number of people within a population. About 5000 to 8000 distinct RDs have been identified, with an estimated 6% to …
Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler–Weber– Rendu syndrome, is a group of related disorders inherited in an autosomal dominant fashion …
S Blöß, C Klemann, AK Rother, S Mehmecke… - PloS one, 2017 - journals.plos.org
Background Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to …
S Bofarid, AE Hosman, JJ Mager, RJ Snijder… - International journal of …, 2021 - mdpi.com
In this review, we discuss the role of transforming growth factor-beta (TGF-β) in the development of pulmonary vascular disease (PVD), both pulmonary arteriovenous …
Background Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder of aberrant blood vessel development characterised by arteriovenous …
AM Hammill, K Wusik, RS Kasthuri - Hematology, 2021 - ashpublications.org
Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal blood …