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 wi...

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Detalles Bibliográficos
Autores principales: Helmi, Muhd Alwi Muhd, Hussain, Suhaimi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the ASEAN Federation of Endocrine Societies 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784171/
https://www.ncbi.nlm.nih.gov/pubmed/33442181
http://dx.doi.org/10.15605/jafes.035.01.22

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