Open access
Jul 2026
The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.
A large-scale trio approach substantially expands the genetic landscape of hypospadias, demonstrates the critical value of trio-based sequencing for improving diagnostic yield, and decisively implicates ciliary genes in its pathogenesis.
Yan-Qin You, Yingliu Luo, Hong-Hui Zhou et al.
· Science China Life Sciences · 0 citations