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Results 1 - 10 of 32 for "Cone-rod" dystrophy 7
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 6 Genetic Testing Registry: Cone-rod dystrophy 7 Genetic Testing Registry: Cone-rod dystrophy 9 Genetic ... CORD5 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 CONE-ROD DYSTROPHY 7; CORD7 CONE-ROD DYSTROPHY 3; CORD3 CONE DYSTROPHY ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. PRPH2 gene 
    ... PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den Hollander ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  3. 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. Epub 2013 Apr 5. Citation on PubMed Huang L, Xiao X, Li S, ... in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun. 2012 ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  4. RP2 gene 
    ... RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  5. CLRN1 gene 
    ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010. ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  6. USH2A gene 
    ... with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. Citation on PubMed or Free article on PubMed Central ... recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  7. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j. ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  8. Retinitis pigmentosa 
    ... PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7. Citation on PubMed Pelletier V, Jambou M, Delphin ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - 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. Citation on ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  10. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
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