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Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene.

Berna Eroğlu FilibeliGönül Çatliİlkay AyranciHayrullah ManyasÖzgür KirbiyikBumin Dündar
Published in: Hormones (Athens, Greece) (2021)
In this case report, a patient with a homozygous variant in the GCK gene, who was diagnosed with DM after the infantile period, was presented, highlighting the fact that cases with homozygous variants in the GCK gene can, though rarely, present at a later age with a milder phenotype.
Keyphrases
  • copy number
  • case report
  • genome wide
  • type diabetes
  • genome wide identification
  • cardiovascular disease
  • glycemic control
  • dna methylation
  • gene expression
  • adipose tissue
  • skeletal muscle
  • weight loss