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...

Полное описание

Библиографические подробности

Главные авторы:	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
Язык:	Inglês
Опубликовано:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2021-11-01
Серии:	Clinical and Experimental Otorhinolaryngology
Предметы:	hereditary hemorrhagic telangiectasia acvrl1 eng genetic screening
Online-ссылка:	http://www.e-ceo.org/upload/pdf/ceo-2020-02124.pdf
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!