Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation
EIF3K纯合变异与神经发育迟缓、小头畸形和生长迟缓相关
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100438
McGivern, Bobbi; Holling, Tess; Guillen Sacoto, Maria J; Gudbjartsson, Hákon; Abdelrazek, Ibrahim M; Alawi, Malik; Bai, Yan; Bodamer, Olaf; Crunk, Amy; Dameron, Amy E; Dyer, Lisa M; Henderson, Lindsay B; Irons, Mira; Kutsche, Kerstin; McGowan, Caroline; Monaghan, Kristin G; O'Connor, Kaitlyn; Rashid, Asma; Redlich, Olivia L; Reich, Adi; Simotas, Christopher; Welner, Sara; Wentzensen, Ingrid M
