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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 muta...

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Detalles Bibliográficos
Autores principales:	Kim, Bo-Gyeong, Jung, Joo-hyun, Kim, Mi-Jung, Moon, Eun-Hye, Oh, Jae-Hwan, Park, Jung-Woo, Cha, Heung-Eog, Kim, Ju-Hyun, Kim, Yoon-Jae, Chung, Jun-Won, Hahm, Ki-Baik, Jin, Hong-Ryul, Jang, Yong-Ju, Kim, Sung Wan, Chung, Seung-Kyu, Kim, Dae-Woo, Lee, Young Jae, Kim, Seon-Tae
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606283/ https://www.ncbi.nlm.nih.gov/pubmed/33677851 http://dx.doi.org/10.21053/ceo.2020.02124

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