A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
CILK1基因的纯合移码变异会导致颅外胚层发育不良
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01902-0
Sezer, Abdullah; Oner, Sukru S; Saat, Hanife; Turan, Merve G; Gungor, Tulin; Cevik, Sebiha; Erol, Asli; Yenisert, Ferhan; Catalbas, Kerem; Ozbakir, Derya Hazal; Kocagil, Sinem; Cilingir, Oğuz; Ergun, Mehmet Ali; Kaplan, Oktay I