Article
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.
BMC pediatrics - 29 Mar 2023
Zhang Qianwen, Chang Guoying, Tang Yijun, Gu Shili, Ding Yu, Chen Yao, Wang Yirou, Liu Shijian, Wang Jian, Wang Xiumin
Abstract excerpt
BACKGROUND: Dyslipidemia, especially hypercholesterolemia is of significant clinical interest. Precise diagnosis is not paid enough attention to about the management of pediatric patients with hypercholesterolemia, which is especially apparent in China. Given this, we designed this study to confirm the specific molecular defects associated with hypercholesterolemia using whole-exome sequencing (WES) to be helpful...
Topics
- Humans
- Child
- Hypercholesterolemia
- Hyperlipoproteinemia Type II
- Phenotype
- Genotype
- Cholesterol, LDL
- Mutation