Article
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
BMC endocrine disorders - 12 Jan 2024
Chang Guoying, Ying Lingwen, Zhang Qianwen, Feng Biyun, Yao Ruen, Ding Yu, Li Juan, Huang Xiaodong, Shen Yongnian, Yu Tingting, Wang Jian, Wang Xiumin
Abstract excerpt
BACKGROUND: ABCC8 variants can cause hyperinsulinemia by activating or deactivating gene expression. This study used targeted exon sequencing to investigate genetic variants of ABCC8 and the associated phenotypic features in Chinese patients with hyperinsulinemic hypoglycemia (HH). METHODS: We enrolled eight Chinese children with HH and analyzed their clinical characteristics, laboratory results, and genetic...
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