Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.
Zeynep MericHatice Betul Gemici KaraaslanEzgi Yalcin GungorenMelika Bektas HortogluTolga CavasSezin AydemirSevgi Bilgic EltanSinem FirtinaYasemin Kendir DemirkolMetin EserŞükrü ÇekiçSuar KilicGulsun KarasuMehmet Akif YesilipekHatice Eke GungorElif Karakoç AydınerAhmet OzenSafa BarışEsra Ozek YucelHaluk CokugrasAyca KiykimPublished in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2024)
Early diagnosis, radiation avoidance, and careful preparation for transplantation contribute to minimizing complications, enhancing life expectancy, and improving the patient's quality of life.