Cite this article as: Pekal AB, Şevik R, Yüzbaşı BK, Güngör O, Karaer K. A rare case: NGLY1 deficiency and diaphragmatic eventration. Turk Arch Pediatr. Published online November 26, 2025. doi:10.5152/ TurkArchPediatr.2025.25234.
Department of Pediatric Neurology, Pamukkale University, Faculty of Medicine, Denizli
2.Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey
3.Department of Medical Genetics, Pamukkale University, Denizli
Cite this article as: Pekal AB, Şevik R, Yüzbaşı BK, Güngör O, Karaer K. A rare case: NGLY1 deficiency and diaphragmatic eventration. Turk Arch Pediatr. Published online November 26, 2025. doi:10.5152/ TurkArchPediatr.2025.25234.