Article
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Diabetologia - 1 Dec 2023
Svalastoga Pernille, Kaci Alba, Molnes Janne, Solheim Marie H, Johansson Bente B, Krogvold Lars, Skrivarhaug Torild, Valen Eivind, Johansson Stefan, Molven Anders, Sagen Jørn V, Søfteland Eirik, Bjørkhaug Lise, Tjora Erling, Aukrust Ingvild, Njølstad Pål R
Abstract excerpt
AIMS/HYPOTHESIS: Correctly diagnosing MODY is important, as individuals with this diagnosis can discontinue insulin injections; however, many people are misdiagnosed. We aimed to develop a robust approach for determining the pathogenicity of variants of uncertain significance in hepatocyte nuclear factor-1 alpha (HNF1A)-MODY and to obtain an accurate estimate of the prevalence of HNF1A-MODY in paediatric cases of...
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