Associated Papers
Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.
Qin G et al.
Frontiers in Cardiovascular Medicine, 2025
40190465 (PubMed )
Supplement: Table2.pdf
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
38202257 (PubMed )
Supplement: jcm-13-00250-s001.zip › jcm-2748090-supplementary.pdf
The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.
Mutize TT et al.
Molecular Biology Reports, 2020
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Is hereditary haemorrhagic telangiectasia rare in the black race? The first sub-Saharan mutation.
Westermann CJ et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.
Abdalla SA et al.
Human Mutation, 2005
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