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A very rare presentation of mitochondrial elongation factor Tu deficiency- TUFM mutation and literature review.

Sabire GokalpAslı InciAyse KilicEkin OzsaydiAyse Nur AltunFevzi DemirFiliz Basak ErginMehmet Nuri OzbekIlyas OkurFatih EzguLeyla Tumer
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
We aimed to expand the clinical spectrum of pathogenic variants of TUFM.
Keyphrases
  • case report
  • oxidative stress
  • copy number
  • replacement therapy
  • gene expression
  • dna methylation