Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Retinitis pigmentosa 23 is an x-linked retinal dystrophy caused by mutations of the ODF1 gene.
Retinitis pigmentosa
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Retinitis pigmentosa 17
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Retinitis pigmentosa 23
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OFD1
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Retinitis pigmentosa and erythrocytic microcytosis
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| 1. |
Hardcastle AJ et al. (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23). 
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Webb TR et al. (2012) Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
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McGuire RE et al. (1995) X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.
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OMIM.ORG article Omim 300424
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