NGS Analysis Revealed Digenic Heterozygous <i>GCK</i> and <i>HNF1A</i> Variants in a Child with Mild Hyperglycemia: A Case Report

NGS Analysis Revealed Digenic Heterozygous <i>GCK</i> and <i>HNF1A</i> Variants in a Child with Mild Hyperglycemia: A Case Report

Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspected MD and a positive family history for diabetes...

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Bibliographic Details
Main Authors: Fernanda Iafusco, Giovanna Maione, Cristina Mazzaccara, Francesca Di Candia, Enza Mozzillo, Adriana Franzese, Nadia Tinto
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Diagnostics
Subjects:
hyperglycemia
digenic variants
GCK/MODY
HNF1A/MODY
Online Access:https://www.mdpi.com/2075-4418/11/7/1164

Internet

https://www.mdpi.com/2075-4418/11/7/1164

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