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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Detalhes bibliográficos
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 em: BMJ Group 2003
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Original Article
Acesso em linha: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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