Condition: Cone-Rod Dystrophy 13


rs192003551 in RPGRIP1 gene and Cone-Rod Dystrophy 13 PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 11528500 2001 Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.