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 TumerPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
We aimed to expand the clinical spectrum of pathogenic variants of TUFM.