Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia

Objectives Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutat...

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Hauptverfasser:	Bo-Gyeong Kim, Joo-hyun Jung, Mi-Jung Kim, Eun-Hye Moon, Jae-Hwan Oh, Jung-Woo Park, Heung-Eog Cha, Ju-Hyun Kim, Yoon-Jae Kim, Jun-Won Chung, Ki-Baik Hahm, Hong-Ryul Jin, Yong-Ju Jang, Sung Wan Kim, Seung-Kyu Chung, Dae-Woo Kim, Young Jae Lee, Seon-Tae Kim
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2021-11-01
Schriftenreihe:	Clinical and Experimental Otorhinolaryngology
Schlagworte:	hereditary hemorrhagic telangiectasia acvrl1 eng genetic screening
Online-Zugang:	http://www.e-ceo.org/upload/pdf/ceo-2020-02124.pdf
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