NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A 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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Detalles Bibliográficos
Autores principales: Iafusco, Fernanda, Maione, Giovanna, Mazzaccara, Cristina, Di Candia, Francesca, Mozzillo, Enza, Franzese, Adriana, Tinto, Nadia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306687/
https://www.ncbi.nlm.nih.gov/pubmed/34202200
http://dx.doi.org/10.3390/diagnostics11071164

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306687/
https://www.ncbi.nlm.nih.gov/pubmed/34202200
http://dx.doi.org/10.3390/diagnostics11071164

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