Results 1 -
10
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27
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Cone dystrophy 3
- ... DYSTROPHY 7; CORD7 CONE-ROD DYSTROPHY 3; CORD3 CONE DYSTROPHY 3; COD3 CONE-ROD DYSTROPHY 13; CORD13 CONE-ROD DYSTROPHY 8; ...
- ... Organization for Rare Disorders (NORD) ClinicalTrials.gov ACHROMATOPSIA 3; ACHM3 ACHROMATOPSIA 2; ACHM2 RETINAL CONE DYSTROPHY 3A; RCD3A ACHROMATOPSIA 4; ACHM4 CONE DYSTROPHY 4; ...
- ... Nakamura M, Ohnishi Y, Miyake Y. Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. Jpn J Ophthalmol. 2004 May-Jun;48(3):228-35. doi: 10.1007/s10384-003-0050- ...
- ... Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase 6C COD4 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' PDEA2 phosphodiesterase 6C, ...
- ... cause achromatopsia and others result in progressive cone dystrophy. ACHM3 CNGB3_HUMAN cone photoreceptor ... NCBI Gene ClinVar Johnson S, Michaelides M, ...
- ... cause achromatopsia and others result in progressive cone dystrophy. ACHM2 CCNC1 CCNCa CCNCalpha CNCG3 CNG3 CNGA3_HUMAN cone photoreceptor cGMP-gated channel alpha subunit Tests of CNGA3 PubMed CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3 NCBI Gene ClinVar Johnson S, Michaelides M, ...
- ... CORDX1 CRD PCDX retinitis pigmentosa 15 retinitis pigmentosa 3 GTPase regulator RP15 RP3 RPGR_HUMAN X-linked retinitis pigmentosa GTPase regulator XLRP3 ... NCBI Gene ClinVar Ayyagari ...
- ... rod homeobox protein CORD2 CRD LCA7 orthodenticle homeobox 3 OTX3 ... Huang L, Li S, Xiao X, Jia X, Wang P, Guo X, Zhang Q. Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep. 2013 Jun;7(6):1779- ...
- Retinitis pigmentosa is an eye disease in which there is damage to the retina . The retina is the layer of tissue at the back of the ...
- ... present in other family members. Pigmentary retinopathy Rod-cone dystrophy RP Tapetoretinal degeneration Genetic Testing Registry: Retinitis pigmentosa ...