Novel mutation leading to splice donor loss in a conserved site of DMD causes cryptorchidism
Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu
The paper identifies a novel DMD mutation causing cryptorchidism through whole-genome sequencing and CRISPR-Cas9 mouse modeling.
Journal of Medical Genetics · Apr 15, 2024Peer-reviewedGenetic & Genomic Medicine