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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...
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| Publicat a: | Endocrinol Diabetes Metab Case Rep |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Bioscientifica Ltd
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7077548/ https://ncbi.nlm.nih.gov/pubmed/32101525 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-19-0125 |
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