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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Autori principali: Berg, J, Porteous, M, Reinhardt, D, Gallione, C, Holloway, S, Umasunthar, T, Lux, A, McKinnon, W, Marchuk, D, Guttmacher, A
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2003
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Original Article
Accesso online: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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