Exome sequencing identifies a homozygous splice site variant in RP1 as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family
Background Mutations in RP1 gene are the third leading cause of inherited retinal dystrophies (IRDs) in Pakistani families.Patients A two-generation consanguineous Pakistani family underwent both clinical and genetic analyses. Clinical examinations included visual acuity test, visual field, fundosco...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2025-12-01
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| Series: | Annals of Medicine |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/07853890.2025.2470953 |
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