Cargando…
Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure
The most common monogenic cause of neonatal diabetes is mutation in KCNJ11, which encodes a potassium channel in pancreatic beta cells. Some mutations in this gene, including Q52R, have been described in association with neurological deficits, but never with hepatic involvement. We report the second...
| Autores principales: | , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2009
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774578/ https://www.ncbi.nlm.nih.gov/pubmed/19956803 http://dx.doi.org/10.1155/2009/453240 |