Turkish Archives of Pediatrics
Scientific Letters

A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration

1.

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

Turk Arch Pediatr 1; 1: -
DOI: 10.5152/TurkArchPediatr.2025.25234
Read: 17 Downloads: 4 Published: 26 November 2025

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.

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