Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants
通过全外显子组测序,在沙特阿拉伯的两个家族中发现了原发性小头畸形的罕见遗传病因:致病性 CDK5RAP2 和 CIT 变异的基因组和表型特征
期刊:Journal of Investigative Medicine High Impact Case Reports
影响因子:0.8
doi:10.1177/23247096261446475
Latif, Kareem; Qi, Jerry; Shah, Pranati; Akhtari, Mojtaba; Albokhari, Daniah; Almarwani, Rayya; Khadawardi, Emad; Saleemi, Muhamed; Abdulaziz, Najlaa; Matar, Kamal; Zubier, Mustafa