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Iafusco F, Maione G, Mazzaccara C, et al. NGS Analysis Revealed Digenic Heterozygous . Diagnostics (Basel). 2021;11(7)doi: 10.3390/diagnostics11071164.
Iafusco, F., Maione, G., Mazzaccara, C., Di Candia, F., Mozzillo, E., Franzese, A., & Tinto, N. (2021). NGS Analysis Revealed Digenic Heterozygous . Diagnostics (Basel, Switzerland), 11(7), . https://doi.org/10.3390/diagnostics11071164
Iafusco, Fernanda, et al. "NGS Analysis Revealed Digenic Heterozygous ." Diagnostics (Basel, Switzerland) vol. 11,7 (2021). doi: https://doi.org/10.3390/diagnostics11071164
Iafusco F, Maione G, Mazzaccara C, Di Candia F, Mozzillo E, Franzese A, Tinto N. NGS Analysis Revealed Digenic Heterozygous . Diagnostics (Basel). 2021 Jun 25;11(7). doi: 10.3390/diagnostics11071164. PMID: 34202200; PMCID: PMC8306687.
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Diagnostics (Basel). 2021 Jun 25;11(7). doi: 10.3390/diagnostics11071164.

NGS Analysis Revealed Digenic Heterozygous .

Diagnostics (Basel, Switzerland)

Fernanda Iafusco, Giovanna Maione, Cristina Mazzaccara, Francesca Di Candia, Enza Mozzillo, Adriana Franzese, Nadia Tinto

Affiliations

  1. Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", 80131 Naples, Italy.
  2. CEINGE Advanced Biotechnology, 80131 Naples, Italy.
  3. Regional Center of Pediatric Diabetology, Section of Pediatrics, Department of Translational Medical Sciences, University of Naples "Federico II", 80131 Naples, Italy.

PMID: 34202200 PMCID: PMC8306687 DOI: 10.3390/diagnostics11071164

Abstract

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 and obesity. In this patient, two gene variants have been identified by next-generation sequencing (NGS): one in the Glucokinase (

Keywords: GCK/MODY; HNF1A/MODY; digenic variants; hyperglycemia

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