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  • Coralie Haudry, Pascale de Lonlay, +8 authors Anne-Sophie Lèbre
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2012 (First Publication: 1 December 2012)
  • We report maternal uniparental disomy of chromosome 2 (matUPD2) in a 9-month-old girl presenting with hepatocerebral mitochondrial DNA depletion syndrome. This patient was homozygous for the c.352C>TContinue Reading