Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 6 is an autosomal recessive disorder caused by mutations of the RPGRIP1 gene.
| 1. |
Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 
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| 2. |
Dryja TP et al. (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis.
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| 3. |
Gerber S et al. (2001) Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
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| 4. |
Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.
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| 5. |
Pawlyk BS et al. (2005) Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.
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| 6. |
OMIM.ORG article Omim 613826
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