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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2006
Konular:
Letter to JMG
Online Erişim: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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