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Results 1 - 10 of 16 for "Cone-rod" dystrophy 20
  1. RPE65 gene 
    ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 RPE65_ ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  2. CRX gene 
    ... Guo X, Zhang Q. Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep. 2013 Jun;7(6):1779- ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  3. RHO gene 
    ... RHO gene have been identified in people with retinitis pigmentosa. RHO gene mutations account for 20 to 30 percent of all cases of autosomal dominant retinitis pigmentosa, which is thought to be the most common ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  4. ABCA4 gene 
    ... genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Citation on PubMed Tsybovsky Y, Molday RS, Palczewski ...
    https://medlineplus.gov/genetics/gene/abca4 - Genetics
  5. RPGR gene 
    ... Alitalo T, Ramser J, Gorin MB. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002 Apr;70(4):1049-53. doi: 10.1086/339620. Epub 2002 Feb 20. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  6. GUCY2D gene 
    ... pedigrees of Finnish origin. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Citation on PubMed Ito S, Nakamura M, Ohnishi Y, Miyake Y. Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  7. BEST1 gene 
    ... a retinal pigment epithelium protein, bestrophin-1, cause retinitis ... Physiology (Bethesda). 2005 Oct;20:292-302. doi: 10.1152/physiol.00021.2005. ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  8. WDR19 gene 
    ... j.ajhg.2011.10.001. Epub 2011 Oct 20. Citation on PubMed or Free article on ... recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  9. CACNA1F gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Variants in the ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  10. CRB1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
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