Novel phenotype due to KCNJ11 pathogenic variant associated with maturity-onset diabetes of the young-KCNJ-11
Introduction: Maturity-onset diabetes of the young (MODY) KCNJ11 is caused by pathogenic variants in the KATP channel of the pancreatic beta-cell leading to altered insulin secretion. Bi-allelic loss-of-function variants lead to neonatal diabetes mellitus (DM) whereas heterozygous gain-of-function v...
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| Hoofdauteurs: | , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
SMC MEDIA SRL
2026-04-01
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| Reeks: | European Journal of Case Reports in Internal Medicine |
| Onderwerpen: | |
| Online toegang: | https://www.ejcrim.com/index.php/EJCRIM/article/view/6130 |
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