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Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation

Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or IPF-1 genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultr...

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Publicat a:Pediatr Diabetes
Autors principals: Thomas, Inas H., Saini, Natinder K., Adhikari, Amita, Lee, Joyce M., Kasa-vubu, Josephine Z., Vazquez, Delia M., Menon, Ram K., Chen, Ming, Fajans, Stefan S.
Format: Artigo
Idioma:Inglês
Publicat: 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6951802/
https://ncbi.nlm.nih.gov/pubmed/19496967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-5448.2009.00526.x
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