Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes
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 or early...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2020-02-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2020/1/EDM19-0125.xml |