Article
A de novo MEN1 gene mutation in a 4-year-old boy with hypoglycemia: A case report and functional study.
Cancer genetics - 1 Jun 2026
Li Jia, Wang Xin-Jing, Zhang Li-Dan, Yu Yi, Xiao Yuan, Xu Chun-Di, Ye Lei, Wang Xin-Qiong, Ma Xiao-Yu, Li Chuan-Yin, Lu Wen-Li
Abstract excerpt
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disease involving multiple endocrine glands. However, early diagnosis and precise treatment remain challenging. This study aimed to explore the pathogenicity and function of a novel MEN1 gene mutation (c.583G>T, p.E195*) found in a 4-year-old boy presenting with recurrent hypoglycemic episodes. METHODS: Functional assays were conducted,...
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