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

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), respect...

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Bibliographic Details
Main Authors: Martin Koenighofer, Thomas Parzefall, Alexandra Frohne, Matthew Allen, Ursula Unterberger, Franco Laccone, Christian Schoefer, Klemens Frei, Trevor Lucas
Format: Article
Language:English
Published: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2019-11-01
Series:Clinical and Experimental Otorhinolaryngology
Subjects:
Telangiectasia
Hereditary Hemorrhagic
Endoglin
Activin Receptor-Like Kinase-1
Online Access:http://www.e-ceo.org/upload/pdf/ceo-2019-00304.pdf

Internet

http://www.e-ceo.org/upload/pdf/ceo-2019-00304.pdf

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