Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization
Our research expands the spectrum of TCOF1 mutations and provides evidence clarifying their pathogenic nature. These findings are crucial for genetic counseling and prenatal diagnosis for TCS patients.
Authors
- Jing Ma (ORCID: https://orcid.org/0000-0001-9074-8570)
- Chenlong Li (ORCID: https://orcid.org/0000-0003-3405-6056)
- Run Yang (ORCID: https://orcid.org/0000-0001-6013-1000)
- Ying Chen (ORCID: https://orcid.org/0000-0002-6594-1579)
- Tianyu Zhang (ORCID: https://orcid.org/0000-0001-5660-3474)
- Xin Chen (ORCID: https://orcid.org/0000-0002-4041-9960)
Institutions
- Fudan University (CN)
- Eye & ENT Hospital of Fudan University (CN)
- Ningxia Medical University (CN)
- Ningxia Medical University General Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-16
- DOI
- https://doi.org/10.1186/s13023-025-03667-7
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Science and Technology Commission of Shanghai Municipality
- Key Technologies Research and Development Program
- Science and Technology Innovation Plan Of Shanghai Science and Technology Commission