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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Detalles Bibliográficos
Autores principales: Hussain, Suhaimi, Mohd Ali, Johari, Jalaludin, Muhammad Yazid, Harun, Fatimah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons A/S 2013
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712474/
https://www.ncbi.nlm.nih.gov/pubmed/23350652
http://dx.doi.org/10.1111/pedi.12011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712474/
https://www.ncbi.nlm.nih.gov/pubmed/23350652
http://dx.doi.org/10.1111/pedi.12011

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