Unraveling the Molecular Landscape of Congenital Pseudoarthrosis of the Tibia: Insights from a Comprehensive Analysis of 162 Probands
Guanghui Zhu, Nan Li, Zheng Yu, Shunyao Wang, Ge Yang, Yaoxi Liu, Zongren Xu, Hui Huang, Huanhuan Peng, Haibo Mei
This study identifies rare LoF variations in key pathways associated with CPT, explaining ~39.6% of cases and highlighting genetic mechanisms underlying the disease.
medRxiv · Jun 28, 2023 · PreprintGenetic & Genomic Medicine