Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop‐gain variant
ABSTRACT Neonatal diabetes mellitus (NDM) is a monogenic condition diagnosed <6 months of age with >40 genetic causes. International guidelines recommend referral for genetic testing immediately after diagnosis since the genetic result guides clinical management. We used next‐generation sequencing t...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2025-05-01
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| Edice: | Journal of Diabetes Investigation |
| Témata: | |
| On-line přístup: | https://doi.org/10.1111/jdi.70022 |
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