CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
CC2D1A 导致纤毛病、智力障碍、异位症、肾发育不良和脑脊液流动异常
期刊:Life Science Alliance
影响因子:3.3
doi:10.26508/lsa.202402708
Angelina Haesoo Kim, Irmak Sakin, Stephen Viviano, Gulten Tuncel, Stephanie Marie Aguilera, Gizem Goles, Lauren Jeffries, Weizhen Ji, Saquib A Lakhani, Canan Ceylan Kose, Fatma Silan, Sukru Sadik Oner, Oktay I Kaplan; MarmaRare Group; Mahmut Cerkez Ergoren, Ketu Mishra-Gorur, Murat Gunel, Sebnem Oze