Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Retinitis pigmentosa 23

Retinitis pigmentosa 23 is an x-linked retinal dystrophy caused by mutations of the ODF1 gene.

Systematic

Retinitis pigmentosa
Retinitis pigmentosa 17
Retinitis pigmentosa 23
OFD1
Retinitis pigmentosa and erythrocytic microcytosis

References:

1.

Hardcastle AJ et al. (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

external link
2.

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).

external link
3.

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.

external link
4.

OMIM.ORG article

Omim 300424 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits