Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles
The novel variants identified in this study will further expand the spectrum of pathogenic variants in CFEOM-related genes. However, no phenotype-genotype correlations were established because of the diversity of the clinical characteristics of these patients.
Authors
- Tong Mo
- Ningdong Li
- Jin Wu (ORCID: https://orcid.org/0000-0002-6721-5431)
- Yunyu Zhou
- Lijuan Huang (ORCID: https://orcid.org/0000-0003-2727-9454)
- Yan Xie
Institutions
- Fujian Medical University (CN)
- Capital Medical University (CN)
- Shanghai Stomatological Hospital (CN)
- Second Affiliated Hospital of Fujian Medical University (CN)
- Beijing Children’s Hospital (CN)
- Shenzhen Children's Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-08-15
- DOI
- https://doi.org/10.1186/s13023-024-03206-w
- Primary Topic
- Ophthalmology and Eye Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Fujian Province
- Fujian Provincial Health Technology Project