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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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Автори: 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
Формат: Artigo
Мова:Inglês
Опубліковано: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2021-11-01
Серія:Clinical and Experimental Otorhinolaryngology
Предмети:
hereditary hemorrhagic telangiectasia
acvrl1
eng
genetic screening
Онлайн доступ:http://www.e-ceo.org/upload/pdf/ceo-2020-02124.pdf
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