Associated Papers
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
Vaché C et al.
European Journal of Human Genetics : Ejhg, 2025
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
Di Iorio V et al.
Investigative Ophthalmology & Visual Science, 2020
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Bellingrath JS et al.
Investigative Ophthalmology & Visual Science, 2017
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V et al.
Human Mutation, 2007
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