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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...

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Detalles Bibliográficos
Autores principales: Bernabeu, Carmelo, Bayrak-Toydemir, Pinar, McDonald, Jamie, Letarte, Michelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7694477/
https://www.ncbi.nlm.nih.gov/pubmed/33167572
http://dx.doi.org/10.3390/jcm9113571

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