Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
CEP295基因的双等位基因变异会导致类似塞克尔综合征的症状，包括原发性小头畸形、发育迟缓、智力障碍、身材矮小、颅面畸形和手指畸形。
期刊:EBioMedicine
影响因子:9.7
doi:10.1016/j.ebiom.2023.104940
Niu Li,Yufei Xu,Hongzhu Chen,Jingqi Lin,Lama AlAbdi,Mir Reza Bekheirnia,Guoqiang Li,Yoel Gofin,Nasim Bekheirnia,Eissa Faqeih,Lina Chen,Guoying Chang,Jie Tang,Ruen Yao,Tingting Yu,Xiumin Wang,Wei Fu,Qihua Fu,Yiping Shen,Fowzan S Alkuraya,Keren Machol,Jian Wang
