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Permanent neonatal diabetes due to a novel insulin signal peptide mutation
We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
John Wiley & Sons A/S
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3712474/ https://ncbi.nlm.nih.gov/pubmed/23350652 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pedi.12011 |
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