Article
Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia.
Thrombosis and haemostasis - 1 Jul 1997
Shovlin C L
Abstract excerpt
Vascular diseases may mimic coagulopathies by presenting as a haemorrhagic state. The archetypal example of an inherited disorder resulting in haemorrhage from dilated vessels of the microvasculature (telangiectasia) is Hereditary Haemorrhagic Telangiectasia (HHT, Rendu-Osler-Weber syndrome). This autosomal dominant disorder is characterised by haemorrhage from nasal, mucocutaneous and gastrointestinal...
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