Article
A Study on the Clinical Phenotypes and Genetic Analysis of ENG Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 Families.
Human mutation - 1 Jan 2026
Gong Yujing, Zhou Tingmin, Fu Xinru, Jiang Yiyi, Wang Danping, Gu Chuangjie, Wu Ruiting, Wang Dan, Yu Chang
Abstract excerpt
Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder primarily caused by pathogenic variants in the ENG gene, leading to clinical manifestations including pulmonary arteriovenous malformation (PAVM), recurrent spontaneous nosebleeds, and other related symptoms. This study is aimed at investigating the clinical manifestations of members in four HHT1 families with PAVMs...
Topics
- Humans
- Telangiectasia, Hereditary Hemorrhagic
- Female
- Male
- Pedigree
- Phenotype
- Endoglin
- Adult
- Exome Sequencing
- Genetic Association Studies
- Mutation
- Genetic Predisposition to Disease
- Middle Aged