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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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2006
Témata:
On-line přístup: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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