Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.

ABSTRACT:

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 for precise diagnosis and treatment.

Methods

Pediatric patients were enrolled using specific criteria and their clinical information were recorded for later evaluation in conjunction with the WES completed for each of these patients.

Results

Our criteria allowed for the initial enrollment of 35 patients, 30 of whom (aged 1.02-12.99 years) underwent successful

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC10053209 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature