ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
ADAT3相关神经发育障碍在24例新患者中发现,p.Val144Met突变频率较高,并存在一个新的创始人变异。
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-06857-2
Rafat, Karima; Abdel-Aleem, Asmaa F; Elbendary, Hasnaa M; Issa, Mahmoud Y; Essawi, Mona L; Abdel-Ghafar, Sherif F; Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Zaki, Maha S