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"Cone-rod" dystrophy 7
- ... PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den Hollander ...
- ... 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 ...
- ... RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. ...
- ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010. ...
- ... 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 ...
- ... 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 ...
- ... 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, ...
- ... 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 ...
- ... 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 ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...