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Article

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

Korean journal of ophthalmology : KJO - 1 Apr 2024

Park Hansol, Hwang Sungsoon, Kim Sang Jin

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Identifiers

PMID: 38351481
DOI: 10.3341/kjo.2023.0119
PMCID: PMC11016683

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Severe Phenotypic Presentation of RPGR-associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case Reports.PMID 38351481Read ↗

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Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.Semantic proximity Read ↗

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Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.Semantic proximity Read ↗

Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.Semantic proximity Read ↗

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