Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.

Guoying ChangLingwen YingQianwen ZhangBiyun FengRuen YaoYu DingJuan LiXiaodong HuangYongnian ShenTingting YuJian WangXiumin Wang

Published in: BMC endocrine disorders (2024)

Gene analysis can aid in the classification, treatment, and prognosis of children with HH. In this study, the identification of seven known and two novel variants in the ABCC8 gene further enriched the variation spectrum of the gene.

Keyphrases

copy number
genome wide
young adults
genome wide identification
type diabetes
machine learning
deep learning
dna methylation
gene expression
adipose tissue
metabolic syndrome
insulin resistance
glycemic control
weight loss
bioinformatics analysis