Article
Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.
Endocrine - 9 Mar 2026
Wang Na, Dong Shenjiao, Hu Lingling, Hong Chenliang, Hu Bingjie, Chen Shuaishuai, Du Juping, Wang Donglian, Jin Minya, Ding Xianhong, Wang Jing, Wang Chenghui, Fang Yicheng, Xu Jiaqin, Zhu Hongguo, Chen Shiyong, Li Jun, Shen Bo, Yang Yuanxing
Abstract excerpt
BACKGROUND: Maturity-onset diabetes of the young (MODY) is a monogenic disease that is often undiagnosed or misdiagnosed in China, leading to inappropriate therapy. In this study, we aimed to determine the pathogenic variants in Chinese patients with clinically suspected MODY. METHODS: A total of 20 probands from 20 unrelated families with suspected MODY in Taizhou Hospital affiliated to Wenzhou Medical...
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