ORIGINAL RESEARCH
Published on 19 Sep 2025
A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome
doi 10.3389/fgene.2025.1646923
- 1,367 views
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Advances in Genetic and Genomic Research for Understanding and Treating Ophthalmic Diseases
Advances in Genetic and Genomic Research for Understanding and Treating Ophthalmic Diseases
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Articles
CASE REPORT
Published on 26 Aug 2025
Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin–Siris syndrome 9 (CSS9) and literature review
doi 10.3389/fped.2025.1603863
- 1,061 views
- 1 citation
CASE REPORT
Published on 21 Aug 2025
Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation
doi 10.3389/fped.2025.1573886
- 1,101 views
- 1 citation
ORIGINAL RESEARCH
Published on 18 Jun 2025
Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa
doi 10.3389/fgene.2025.1516872
- 2,337 views
ORIGINAL RESEARCH
Published on 09 Apr 2025
Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment
doi 10.3389/fgene.2025.1485874
- 2,024 views
- 1 citation
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Genomic Assay Technology
Participating Journals
Frontiers in Medicine
- 3.0 impact factor
- 6.0 citescore
Frontiers in Ophthalmology
- 0.9 impact factor
- 1.2 citescore
Frontiers in Pediatrics
- 2.0 impact factor
- 4.3 citescore
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