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Article

Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis.

Frontiers in endocrinology - 1 Jan 2022

Ge Shenghui, Yang Mengge, Gong Wenfeng, Chen Wenzhe, Dong Jianjun, Liao Lin

Abstract excerpt

Background: 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. Case Presentation: 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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35992134
DOI: 10.3389/fendo.2022.917819
PMCID: PMC9388818

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