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- W4387300230 abstract "ABSTRACT Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the HNF1B gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report highlights family members with MODY 5 presenting with increased liver enzymes with no etiology. The siblings and their mother had a point mutation p.Arg235Trp in HNF1B gene located at 17q12. This variant is associated with autosomal dominant MODY 5 with renal cysts also known as renal cysts and diabetes syndrome." @default.
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- W4387300230 date "2023-10-01" @default.
- W4387300230 modified "2023-10-16" @default.
- W4387300230 title "Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)" @default.
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- W4387300230 doi "https://doi.org/10.14309/crj.0000000000001150" @default.
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