Condition: CONE-ROD DYSTROPHY 12 (disorder)
rs137853006
in
PROM1
gene and
CONE-ROD DYSTROPHY 12 (disorder)
PMID 18654668
2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
PMID 19718270
2009 Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
PMID 10205271
1999 A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.