Clinical and mutational signatures of <i>CRB1</i>-associated retinopathies: a multicentre study
Key clinical and mutational signatures were demonstrated in this study, providing a comprehensive update on <i>CRB1</i>-associated retinopathies that will aid in diagnosis and lay the foundation for future therapeutic studies.
Authors
- Mingjiang Wang (ORCID: https://orcid.org/0009-0007-4617-0995)
- Yuqiao Ju
- Qing Chang (ORCID: https://orcid.org/0000-0003-4288-9736)
- Yuan Zong (ORCID: https://orcid.org/0000-0002-0178-990X)
- Gezhi Xu (ORCID: https://orcid.org/0000-0001-8546-950X)
- Hui Du (ORCID: https://orcid.org/0000-0002-2196-0014)
- Xin Huang (ORCID: https://orcid.org/0000-0001-7988-3202)
- Chen Duan (ORCID: https://orcid.org/0000-0002-6223-9792)
- Linying Guo (ORCID: https://orcid.org/0000-0002-4138-996X)
- Ting Zhang (ORCID: https://orcid.org/0000-0001-5676-4825)
Institutions
- Shanghai Jiao Tong University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Fudan University (CN)
- Second People's Hospital of Yunnan Province (CN)
- Eye & ENT Hospital of Fudan University (CN)
- Shandong Eye Hospital (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-11-04
- DOI
- https://doi.org/10.1136/jmg-2024-110289
- Citations
- 5
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.17
Funders
- National Natural Science Foundation of China
- Science and Technology Commission of Shanghai Municipality