| 1 | A Case Report of MODY_(3)Combined with Intestinal Neuroendocrine Tumor显示文摘Maturity-onset diabetes of the young 3(MODY_(3))is an autosomal dominant monogenic diabetes mellitus characterized by defective p-cell function and non-insulin-dependent early-onset diabetes mellitus.The facts that patients with MODY_(3) are often misdiagnosed as type 1 and type 2 diabetes mellitus and genetic diagnosis is expensive,make its diagnosis very challenging.In this study,we reported a case of MODY_(3),which was verified to be caused by a mutation in hepatocyte nuclear factor 1αgene(c.598C>X p.Arg200Trp).In addition,the patient had a neuroendocrine tumor simultaneously,and a KMT2D gene mutation(c.5587C>G,p.Prol863Ala)might be associated with this leson. | Tieli Li Haixuan Ding Xinlan Zhao Juan Luo Kai Chen Zhuo Tang Lingyun Huang Langbo Li Li Yang | 2022 | Chinese Medical Sciences Journal2022，37，2： | 0 |
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