Severe Phenotypic Presentation of RPGR-associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case Reports
Author:
Funder
Korea Health Industry Development Institute
Ministry of Health and Welfare
Publisher
Korean Ophthalmological Society
Link
http://ekjo.org/upload/pdf/kjo-2023-0119.pdf
Reference5 articles.
1. Disease Course of Patients with X-linked Retinitis Pigmentosa due toRPGRGene Mutations
2. RPGRmutation analysis and disease: an update
3. RPGR-Related X-Linked Retinitis Pigmentosa Carriers with a Severe “Male Pattern”
4. X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa
5. Mutations in the X-Linked Retinitis Pigmentosa GenesRPGRandRP2Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa
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