De Novo Missense Variant in <i>TP63</i> Gene: Insights on Clinical and Molecular Investigations
The family exhibits significant symptoms consistent with TP63 syndrome. The identified missense mutation is preliminarily considered to be pathogenic.
Authors
- Yao‐Cheng Lin (ORCID: https://orcid.org/0000-0002-9390-795X)
- Ji‐Long Chen (ORCID: https://orcid.org/0000-0002-4274-0563)
- Xueyan Xi (ORCID: https://orcid.org/0000-0002-3164-9895)
- Xiaoman Xu
Institutions
- Fujian Medical University (CN)
- Xiamen University (CN)
- Stomatology Hospital (CN)
Publication Details
- Journal
- The Journal of Gene Medicine
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1002/jgm.70055
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00