Open access
Aug 2026
Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia
The findings support a multilayered pathogenic model in which genetic variants collectively disrupt the core developmental pathways involved in posterior axis formation, vasculogenesis, and organogenesis and identify potential targets for future research and clinical applications.
Zefeng Zhu, Wanting Hao, Ziyu Wan et al.
· Italian Journal of Pediatric... · 0 citations