Unraveling the Molecular Landscape of Congenital Pseudoarthrosis of the Tibia: Insights from a Comprehensive Analysis of 159 Probands

Rui Wang,Yu Zheng,Ge Yang, Zhenchao Xu,Yaoxi Liu, Weihua Zhao, Hua Wang,Haibo Mei,Guanghui Zhu

Orphanet Journal of Rare Diseases（2025）

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关键词

Congenital pseudarthrosis of the tibia,Whole exome sequencing,Genetic mutations,NF1

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