Genetic & Genomic MedicinemedRxivPreprint
Unraveling the Molecular Landscape of Congenital Pseudoarthrosis of the Tibia: Insights from a Comprehensive Analysis of 162 Probands
Guanghui Zhu, Nan Li, Zheng Yu…·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.
DOI 10.1101/2023.06.28.23292011