Article

Unraveling the Molecular Landscape of Congenital Pseudoarthrosis of the Tibia: Insights from a Comprehensive Analysis of 162 Probands

2023-07-03

Abstract excerpt

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 the difficulty of reunion after tibial fractures during early childhood, with a very low prevalence between 1/250,000∼1/140,000. While 80%–84% of CPT cases present with neurofibromatosis type 1, caused by the mutations in NF1 , th...

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Literature Corpus work: b5ef6ad4-d890-5e4c-ab0f-dffda9ed648e
DOI: 10.1101/2023.06.28.23292011

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