Whole-exome Sequencing Study of Hypospadias
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Qiang Xie, Fang Chen
The paper identifies rare damaging variants in outer DNAH genes in 22.5% of severe hypospadias patients, suggesting their role in the condition and potential for genetic counseling.
iScience · Apr 12, 2023Peer-reviewedGenetic & Genomic Medicine