n South African Medical Journal - Hereditary haemorrhagic telangiectasia in North African and sub-Saharan patients : correspondence
|Article Title||Hereditary haemorrhagic telangiectasia in North African and sub-Saharan patients : correspondence|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University of Pavia, Italy, 2 University of Pavia, Italy and 3 University of Pavia, Italy|
|Publication Date||Apr 2014|
|Pages||256 - 257|
Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal-dominant inherited vascular disease, characterised by the presence of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs). Three main causative genes are known: ENG, ACVRL1 and SMAD4. BMP9 has also been shown to be involved in a small number of cases. We report two cases of HHT in North African and sub-Saharan patients.
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