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.