Article
A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype.
Swiss medical weekly - 26 Jul 2008
Argyriou Loukas, Wirbelauer Johannes, Dev Arvind, Panchulidze Irakli, Shoukier Moneef, Teske Ute, Nayernia Karim
Abstract excerpt
UNLABELLED: Hereditary haemorrhagic telangiectasia (HHT), associated with arteriovenous malformations, is a genetic disease of the vascular system with a frequency of approx. 1:10,000. Genetic diagnosis serves to identify individuals at risk of developing the disease and is a useful tool for gene...
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