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Article

Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report.

Frontiers in endocrinology - 1 Jan 2021

Guo Mei, Xu Qinqin, Yu Xuefeng, Yang Qin, Shao Shiying

Abstract excerpt

Background: Agenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene. Case Presentation: We report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the HNF1B score was estimated as 16 and a heterozygous variant of HNF1B in exon 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34721285
DOI: 10.3389/fendo.2021.640006
PMCID: PMC8554068

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