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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Autores principales:	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
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2021-11-01
Colección:	Clinical and Experimental Otorhinolaryngology
Materias:	hereditary hemorrhagic telangiectasia acvrl1 eng genetic screening
Acceso en línea:	http://www.e-ceo.org/upload/pdf/ceo-2020-02124.pdf
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