Article
Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.
Journal of clinical laboratory analysis - 1 Sept 2022
Zhang Wenqiu, Hu Li, Huang Xinyi, Xie Dan, Wu Jiangfen, Fu Xiaoling, Liang Daiyi, Huang Shengwen
Abstract excerpt
BACKGROUND: Intellectual disability (ID) represents a neurodevelopmental disorder, which is characterized by marked defects in the intellectual function and adaptive behavior, with an onset during the developmental period. ID is mainly caused by genetic factors, and it is extremely genetically heterogeneous. This study aims to identify the genetic cause of ID using trio-WES analysis. METHODS: We recruited four...
Topics
- Child
- Humans
- Intellectual Disability
- Mutation
- Exome Sequencing