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• W4289888936 abstract "Maturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene.We reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the HNF1B score was estimated as 13 and a heterozygous variant of HNF1B in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing.Multiple renal cysts and youth-onset diabetes are common manifestations in patients with HNF1B mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5." @default.
• W4289888936 created "2022-08-05" @default.
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• W4289888936 date "2022-08-05" @default.
• W4289888936 modified "2023-09-30" @default.
• W4289888936 title "Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis" @default.
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• W4289888936 doi "https://doi.org/10.3389/fendo.2022.917819" @default.
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