Condition: CONE-ROD DYSTROPHY 18


rs751163782 in RAB28 gene and CONE-ROD DYSTROPHY 18 PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.