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A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype.
Loukas Argyriou
1 ,
Johannes Wirbelauer ,
Arvind Dev ,
Irakli Panchulidze ,
Moneef Shoukier ,
Ute Teske ,
Karim Nayernia
Jul 26 2008
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Abstract
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 genetic counselling purposes.
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