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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Letter to JMG
Acesso em linha: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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