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Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes
SUMMARY: This case report describes a family pedigree of a mother and her children with an E227K mutation in the KCNJ11 gene. People with this particular gene mutation typically present with transient neonatal diabetes; with more than half the cohort relapsing into permanent diabetes in adolescence...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077548/ https://www.ncbi.nlm.nih.gov/pubmed/32101525 http://dx.doi.org/10.1530/EDM-19-0125 |