Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern
This study expands the mutational spectrum of AXIN2-associated isolated tooth agenesis and provides in vitro functional evidence supporting the pathogenicity of the identified variants. These findings offer important insights for genetic diagnosis and counseling in affected families.
Authors
- Bichen Lin
- Kai Sun (ORCID: https://orcid.org/0000-0002-0552-970X)
- Miao Yu (ORCID: https://orcid.org/0000-0001-8608-8354)
- Cuizhi Geng (ORCID: https://orcid.org/0000-0001-5541-5412)
- Dong Han (ORCID: https://orcid.org/0000-0001-9625-3384)
- Haochen Liu (ORCID: https://orcid.org/0000-0002-1801-4879)
- Hailan Feng (ORCID: https://orcid.org/0000-0002-7640-5990)
- Yang Liu (ORCID: https://orcid.org/0009-0004-0602-7439)
Institutions
- National Clinical Research Center for Digestive Diseases (CN)
- National Clinical Research (US)
Publication Details
- Journal
- BMC Oral Health
- Published
- 2025-12-08
- DOI
- https://doi.org/10.1186/s12903-025-07232-3
- Primary Topic
- dental development and anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China