Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes
Introduction: The intraflagellar transport (IFT) complex plays a key role in protein transport and turnover within photoreceptors. IFT140 and IFT172 gene mutations have been associated with skeletal ciliopathies that occur concurrently with retinal dystrophy. These mutations have also bee...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2025-03-01
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| Series: | Case Reports in Ophthalmology |
| Online Access: | https://karger.com/article/doi/10.1159/000545390 |
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