Novel homozygous frameshift mutation of ITGB3 in the Glanzmann thrombasthenia patient with abnormal bone metabolism and congenital bone defects
A novel mutation of ITGB3 which results in GT was identified. This is the third reported case of GT combined with bone defect. Our work expands ITGB3 mutation spectrum and provide further insights into the potential association between GT and bone development and metabolism.
Authors
- Ning Guo (ORCID: https://orcid.org/0000-0002-6936-8589)
- Yujiao Luo
- Jihong Li (ORCID: https://orcid.org/0000-0002-5162-2737)
- Yewei Wang (ORCID: https://orcid.org/0009-0000-3180-2135)
Institutions
- Central South University (CN)
- Second Xiangya Hospital of Central South University (CN)
- Third Hospital of Changsha (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-18
- DOI
- https://doi.org/10.1186/s13023-025-03700-9
- Citations
- 1
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.77
Funders
- Natural Science Foundation of Hunan Province
- Science and Technology Program of Hunan Province