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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2006
Matèries:
Letter to JMG
Accés en línia: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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