Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs) in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β) signaling...

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Vydáno v:Front Genet
Hlavní autoři: McDonald, Jamie, Wooderchak-Donahue, Whitney, VanSant Webb, Chad, Whitehead, Kevin, Stevenson, David A., Bayrak-Toydemir, Pinar
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2015
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4306304/
https://ncbi.nlm.nih.gov/pubmed/25674101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00001
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