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Results 1 - 10 of 51 for "Cone-rod" dystrophy 20
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 2 Genetic Testing Registry: Cone-rod dystrophy 20 Genetic Testing Registry: Cone-rod dystrophy 3 Genetic ... DYSTROPHY 10; CORD10 CONE-ROD DYSTROPHY 18; CORD18 CONE-ROD DYSTROPHY 20; CORD20 CONE-ROD DYSTROPHY 9; CORD9 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. 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
  3. Retinitis pigmentosa 
    ... than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal ... are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. At least ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  4. 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
  5. 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
  6. 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
  7. Retinitis pigmentosa 
    ... org/eye-health/tips-prevention/gene-therapy-new-retinitis-pigmentosa-lca-luxturna . Updated August 16, 2021. Accessed February 20, 2024. Cioffi GA, Liebmann JM. Diseases of the ...
    https://medlineplus.gov/ency/article/001029.htm - Medical Encyclopedia
  8. 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
  9. Mainzer-Saldino syndrome 
    ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  10. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
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