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Familial Mediterranean fever gene variations could trigger VPS16 -associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association.

Yagmur Inalkac GemiciCemal EkiciMelike BatumCenk AkbostanciAhmet KocHatice Mavioglu
Published in: Rheumatology advances in practice (2024)
variation load in this family and the fact that DM occurs at an earlier age suggest that inflammation may cause an early diabetic clinical presentation.
Keyphrases
  • early onset
  • late onset
  • oxidative stress
  • type diabetes
  • glycemic control
  • genome wide
  • copy number
  • wound healing
  • dna methylation
  • genome wide identification
  • skeletal muscle
  • transcription factor
  • bioinformatics analysis