Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations

Background: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterised by mucocutaneous telangiectasis, epistaxis, gastrointestinal haemorrhage, and arteriovenous malformations in the lung and brain. Causative mutations for HHT have been identified in two...

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Main Authors: Berg, J, Porteous, M, Reinhardt, D, Gallione, C, Holloway, S, Umasunthar, T, Lux, A, McKinnon, W, Marchuk, D, Guttmacher, A
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2003
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735540/
https://ncbi.nlm.nih.gov/pubmed/12920067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.8.585
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