Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewed
Novel mutation leading to splice donor loss in a conserved site of DMD causes cryptorchidism
Jianhai Chen, Yangying Jia, Jie Zhong…·Huayan Xu
The paper identifies a novel DMD mutation causing cryptorchidism through whole-genome sequencing and CRISPR-Cas9 mouse modeling.
6 citations