Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192
Jihong Guo, Wenbin He, Lei Dai, Fen Tian, Zhenqing Luo, Fang Shen, Ming Tu, Zheng Yu, Zhao Liu, Chen Tan, Yongteng Guo, Lanlan Meng, Wei Liu, Mei Deng, Xinghan Wu, , Yongjia Yang
The paper identifies CEP192 as a novel disease gene linked to mosaic variegated aneuploidy syndrome with tetraploidy and male infertility through genetic analysis and mouse models.
medRxiv · Jul 22, 2023 · PreprintGenetic & Genomic Medicine