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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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Main Authors: | , , , , , , |
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格式: | Artigo |
語言: | Inglês |
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BMJ Group
2006
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在線閱讀: | 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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