Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities
This study provided a comprehensive characterization of the diverse clinical phenotypes of CC in Chinese cohort and updates the mutational landscape of CC-associated genes. By employing WES, we expand the genetic spectrum and highlight additional genotype-phenotype correlations in CCs.
Authors
- Siyan Li
- Zhuohan Liu
- Hongfang Zhang (ORCID: https://orcid.org/0000-0002-3255-1857)
- Ruiwen Zhang
- Dandan Wang (ORCID: https://orcid.org/0000-0002-3240-884X)
- Yinying Zhao
- Xixia Ding
- Fenfen Li (ORCID: https://orcid.org/0000-0001-7247-8415)
- Pingjun Chang
- Yun‐e Zhao (ORCID: https://orcid.org/0000-0003-0805-1163)
Institutions
- Wenzhou Medical University (CN)
- Affiliated Eye Hospital of Wenzhou Medical College (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1186/s12920-025-02255-9
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Science and Technology Plan Project of Wenzhou, China