Condition: Cone-Rod Dystrophy 2


rs104894671 in CRX gene and Cone-Rod Dystrophy 2 PMID 9427255 1997 Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

PMID 9390563 1997 Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

PMID 9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PMID 10887186 2000 The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

rs796051882 in PROM1 gene and Cone-Rod Dystrophy 2 PMID 26153215 2016 Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.