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Results 1 - 9 of 9 for "Cone-rod" dystrophy 6
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 5 Genetic Testing Registry: Cone-rod dystrophy 6 Genetic Testing Registry: Cone-rod dystrophy 7 Genetic ... CORD1 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 CONE-ROD DYSTROPHY 6; CORD6 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. CRX gene 
    ... in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep. 2013 Jun;7(6):1779-85. doi: 10.3892/mmr.2013.1415. ... Q. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations ... One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone.0065546. Print ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  3. RPGR gene 
    ... novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  4. GUCY2D gene 
    ... Tolun A. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010.81. Epub 2010 ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  5. CACNA1F gene 
    ... disease. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103. Citation on PubMed Jalkanen R, Mantyjarvi M, Tobias R, Isosomppi J, Sankila 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
  6. PDE6C gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More ... to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  7. Retinitis pigmentosa 
    ... RP Tapetoretinal degeneration ... RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  8. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod ... ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  9. CNGB3 gene 
    ... This Health Condition MedlinePlus Genetics provides ... in CNGB3. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics