Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report
In this study, the c.1060 + 1G > A heterozygous mutation of the CTNNB1 gene is the main cause of FEVR disease in proband, and this pathogenic mutation expands the spectrum of CTNNB1 gene functional loss mutations in the Chinese population.
Authors
- Weiwei Zang
- Yanan Wang (ORCID: https://orcid.org/0000-0002-8754-3221)
- Hongtao Lei (ORCID: https://orcid.org/0000-0002-1697-1747)
- Yuqiong Chai
- Weiyan Yan
- Yujie Chang
Institutions
- Luoyang Institute of Science and Technology (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-02-26
- DOI
- https://doi.org/10.1186/s12887-025-05508-9
- Primary Topic
- Wnt/β-catenin signaling in development and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00