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Results 1 - 10 of 16 for "Cone-rod" dystrophy 7
  1. ... PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den Hollander ...
  2. ... 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 ...
  3. ... RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. ...
  4. ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010. ...
  5. ... 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 ...
  6. ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155(01)00425-7. Citation on PubMed Qian J, Atkinson J, Manor ...
  7. ... been found to cause a vision disorder called cone-rod dystrophy. The problems associated with this condition include a ... for 30 to 60 percent of cases of cone-rod dystrophy that are inherited in an autosomal recessive pattern, ...
  8. ... 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 ...
  9. ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... nucleotide-gated channel. Hum Mutat. 2010 Jul;31(7):830-9. doi: 10.1002/humu.21283. Citation ...
  10. ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
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