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Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that presents with telangiectases in skin and mucosae, and arteriovenous malformations (AVMs) in internal organs such as lungs, liver, and brain. Mutations in ENG (endoglin), ACVRL1 (ALK1), and MADH4 (Smad4) genes...
Sparad:
| I publikationen: | J Clin Med |
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| Huvudupphovsmän: | , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
MDPI
2020
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7694477/ https://ncbi.nlm.nih.gov/pubmed/33167572 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9113571 |
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