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

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: article
Lenguaje:EN
Publicado: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2021
Materias:
hereditary hemorrhagic telangiectasia
acvrl1
eng
genetic screening
Medicine
R
Otorhinolaryngology
RF1-547
Acceso en línea:https://doaj.org/article/d419a3f8a8564f3faefb9b574f48524e
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https://doaj.org/article/d419a3f8a8564f3faefb9b574f48524e

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