Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.
Jianhai ChenYangying JiaJie ZhongKun ZhangHongzheng DaiGuanglin HeFuping LiLi ZengChuanzhu FanHuayan XuPublished in: Journal of medical genetics (2024)
gene mutation in causing cryptorchidism. The results also suggest that maternal-X inheritance of pathogenic defects could have a predominant role in the development of cryptorchidism.