Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands
These findings shed light on novel genetic mutations and osteocyte transcriptome-related molecular pathways involved in CPT, providing a new framework for understanding the genetic regulation of CPT pathology and suggesting potential directions to further elucidate its pathogenesis.
Authors
- Ge Yang (ORCID: https://orcid.org/0000-0003-3701-5911)
- Rui Wang (ORCID: https://orcid.org/0000-0002-1688-9452)
- Yaoxi Liu
- Haibo Mei (ORCID: https://orcid.org/0000-0002-9434-1716)
- Yu Zheng (ORCID: https://orcid.org/0000-0002-2511-961X)
- Hua Wang (ORCID: https://orcid.org/0000-0003-0217-8358)
- Guanghui Zhu (ORCID: https://orcid.org/0000-0003-1418-2768)
- Zhenchao Xu (ORCID: https://orcid.org/0000-0002-3111-7792)
- Weihua Zhao
Institutions
- Central South University (CN)
- Hunan University of Traditional Chinese Medicine (CN)
- Hunan University (CN)
- Hunan Children's Hospital (CN)
- University of South China (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-06-03
- DOI
- https://doi.org/10.1186/s13023-025-03759-4
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Hainan Province