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Genotype‐phenotype relationship in hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by vascular malformations in multiple organ systems, resulting in mucocutaneous telangiectases and arteriovenous malformations predominantly in the lungs (pulmonary arteriovenous malformation; PAVM), brain (...

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Bibliografische gegevens
Hoofdauteurs: Letteboer, T G W, Mager, J J, Snijder, R J, Koeleman, B P C, Lindhout, D, van Amstel, J K Ploos, Westermann, C J J
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2006
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563220/
https://ncbi.nlm.nih.gov/pubmed/16155196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.035451
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