Genetic & Genomic MedicinemedRxivPreprint
Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192
Jihong Guo, Wenbin He, Lei Dai…·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.