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Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

Hereditary haemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterised by epistaxis, telangiectases, and visceral manifestations. The two known disease types, HHT1 and HHT2, are caused by mutations in the endoglin (ENG) and ALK-1 genes, respectively. A higher frequency of pulmonar...

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Hlavní autoři: Abdalla, S, Geisthoff, U, Bonneau, D, Plauchu, H, McDonald, J, Kennedy, S, Faughnan, M, Letarte, M
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2003
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735537/
https://ncbi.nlm.nih.gov/pubmed/12843319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.7.494
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