Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands

Abstract Background Congenital pseudarthrosis of the tibia (CPT, HP:0009736), commonly known as bowing of the tibia, is a rare congenital tibia malformation characterized by spontaneous tibial fractures and difficulty in reunion after tibial fractures during early childhood, with a prevalence betwee...

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Main Authors: Rui Wang, Yu Zheng, Ge Yang, Zhenchao Xu, Yaoxi Liu, Weihua Zhao, Hua Wang, Haibo Mei, Guanghui Zhu
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03759-4
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