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UnknownGNB1-Related Rod-Cone Dystrophy: A Case Report.
Not available
S-EPMC10948171 | biostudies-literature
UnknownMutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
Not available
S-EPMC2976051 | biostudies-literature
UnknownMutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Not available
S-EPMC2668018 | biostudies-literature
UnknownA novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
Not available
S-EPMC2987461 | biostudies-literature
UnknownWDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Not available
S-EPMC8049445 | biostudies-literature
UnknownMutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Not available
S-EPMC3882913 | biostudies-literature
ProteomicsLoss of function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy
Over 500 genes have been linked to various forms of inherited retinal diseases (IRDs), a class of Mendelian conditions affecting the survival and function of rod and cone photoreceptors and leading in most instances to progressive visual loss. Yet, some patients still lack a clear genetic diagnosis,...
ORGANISM(S): Bos Taurus (ncbitaxon:9913) 
2026-01-28 | MSV000100624 | MassIVE
UnknownSPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
Not available
S-EPMC4988809 | biostudies-literature
UnknownAnalysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy.
Not available
S-EPMC7503557 | biostudies-literature
TranscriptomicsMouse retina single-cell RNA-seq of WT and two Nr2e3 mutant models to explore the role of Nr2e3 in cone and rod photoreceptor differentiation
Single-cell RNA-seq of mouse WT retinas and two Nr2e3 mutant retinas, ∆27 and ∆E8 (containing a 27 nucleotide in-frame deletion or a complete exon 8 deletion, respectively). The ∆27 retinas were used as a model for enhanced S-cone syndrome phenotype in humans, while the ∆E8 retinas show a progressiv...
ORGANISM(S): Mus musculus 
2024-05-18 | E-MTAB-12183 | biostudies-arrayexpress
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