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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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Hoofdauteurs: | , , , , , , |
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Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
BMJ Group
2006
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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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