Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Hamidreza MianesazSafoura GhalamkariFarzaneh AbbasiMaryam Razzaghy-AzarFatemeh SayarifardRahim VakiliMaryam SedghiSamaneh Noroozi AslSousan HosseiniMahsa M. AmoliHanieh YaghootkarPublished in: Journal of diabetes investigation (2024)
These findings provide valuable insights into the genetic landscape of NDM in the Iranian population and contribute to the knowledge of novel pathogenic variants within known causative genes.
Keyphrases
- genome wide
- copy number
- end stage renal disease
- chronic kidney disease
- ejection fraction
- newly diagnosed
- healthcare
- dna methylation
- single cell
- prognostic factors
- peritoneal dialysis
- genome wide identification
- gene expression
- type diabetes
- patient reported outcomes
- multidrug resistant
- escherichia coli
- skeletal muscle
- genome wide analysis
- weight loss