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Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.

Clinical endocrinology - 1 Nov 2024

Ba Tianhao, Ren Qian, Gong Siqian, Li Meng, Cai Xiaoling, Liu Wei, Luo Yingying, Zhang Simin, Zhang Rui, Zhou Lingli, Zhu Yu, Zhang Xiuying, Chen Jing, Wu Jing, Zhou Xianghai, Li Yufeng, Wang Xirui, Wang Fang, Zhong Liyong, Han Xueyao, Ji Linong

Abstract excerpt

OBJECTIVE: Gain-of-function (GOF) variants of KCNJ11 cause neonate diabetes and maturity-onset diabetes of the young (KCNJ11-MODY), while loss-of-function (LOF) variants lead to hyperinsulinemia hypoglycemia and subsequent diabetes. Given the limited research of KCNJ11-MODY, we aimed to analyse its phenotypic features and prevalence in Chinese patients with early-onset type 2 diabetes (EOD). DESIGN, PATIENTS AND...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39190464
DOI: 10.1111/cen.15126

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