Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report
Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is the most severe form of Permanent Neonatal Diabetes with KCNJ11 gene mutation which accounts for most of the cases. We report the first DEND syndrome in Malaysia with heterozygous missense mutation Q52R at KCNJ11 (Kir6.2) gene w...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
ASEAN Federation of Endocrine Societies
2020-04-01
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| Edice: | Journal of the ASEAN Federation of Endocrine Societies |
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| On-line přístup: | https://asean-endocrinejournal.org/index.php/JAFES/article/view/699 |
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