Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities
NRDC基因的双等位基因变异会导致一种神经发育障碍，其特征是新生儿死亡、小头畸形和脑部异常。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2026.01.017
Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee
