Associated Papers
Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.
Kim D et al.
Neurointervention, 2019
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
Olivieri C et al.
Journal of Human Genetics, 2007
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD et al.
Human Mutation, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Select a paper to view details