- ... Institute) Also in Spanish Clinical Trials ClinicalTrials.gov: Color Vision Defects (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
- ... Allelic Disorders (Not in the Differential Diagnosis of Achromatopsia) View in own window Gene Disorder Reference CNGB3 Macular degeneration Nishiguchi et al [2005] GNAT2 ...
- ... ACHROMATOPSIA 2; ACHM2 RETINAL CONE DYSTROPHY 3A; RCD3A ACHROMATOPSIA 4; ACHM4 CONE DYSTROPHY 4; COD4 Scientific Articles on PubMed PubMed References Chang B, Grau T, Dangel S, Hurd R, Jurklies ...
- ... CNGA3 Gene and Variant Databases NCBI Gene ClinVar References Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and ...
- ... CNGB3 Gene and Variant Databases NCBI Gene ClinVar References Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and ...
- ... GNAT2 Gene and Variant Databases NCBI Gene ClinVar References Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline ...
- ... PDE6C Gene and Variant Databases NCBI Gene ... basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc ...
- ... PDE6H Gene and Variant Databases NCBI Gene ... mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91( ...
- ... that affect the perception of color. Red-green color vision defects are the most common form of color vision ... shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause ...
- ... phase (lymphoproliferative infiltration of bone marrow & reticuloendothelial system) Achromatopsia AFT6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H AR Infantile nystagmus (pendular or jerk nystagmus in achromatopsia) In achromatopsia: Reduced or complete loss of color ...
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