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Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort

OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused by variants in endoglin (ENG) and activin receptor-like kinase-1 (ACVRL1), respec...

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Detalles Bibliográficos
Autores principales:	Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Allen, Matthew, Unterberger, Ursula, Laccone, Franco, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787484/ https://www.ncbi.nlm.nih.gov/pubmed/31220907 http://dx.doi.org/10.21053/ceo.2019.00304

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