Associated Papers
Splenomegaly in a Patient with Hereditary Hemorrhagic Telangiectasia.
Noritomi D et al.
The American Journal of Medicine, 2025
Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.
Govani FS et al.
Molecular Syndromology, 2013
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
McDonald J et al.
Clinical Genetics, 2011
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
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