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...

Whakaahuatanga katoa

Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	Fernanda Iafusco, Giovanna Maione, Cristina Mazzaccara, Francesca Di Candia, Enza Mozzillo, Adriana Franzese, Nadia Tinto
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	MDPI AG 2021-06-01
Rangatū:	Diagnostics
Ngā marau:	hyperglycemia digenic variants GCK/MODY HNF1A/MODY
Urunga tuihono:	https://www.mdpi.com/2075-4418/11/7/1164
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!