Severe Phenotypic Presentation of RPGR -associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case Reports

참고문헌 (5)

1. Sandberg MA, "Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations", Invest Ophthalmol Vis Sci, 48, pp.1298~1304 (2007)
2. Shu X, "RPGR mutation analysis and disease : an update", Hum Mutat, 28, pp.322~328 (2007)
3. Salvetti AP, "RPGR-related X-linked retinitis pigmentosa carriers with a severe"male pattern"", Ophthalmologica, 244, pp.60~67 (2021)
4. Fahim AT, "X-chromosome inactivation is a biomarker of clinical severity in female carriers of RPGR-associated X-linked retinitis pigmentosa", Ophthalmol Retina, 4, pp.510~520 (2020)
5. Churchill JD, "Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa", Invest Ophthalmol Vis Sci, 54, pp.1411~1416 (2013)

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