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Article

Novel NR2E3 Mutations (R104Q, R334G) Associated with a Mild Form of Enhanced S-Cone Syndrome Demonstrate Compound Heterozygosity

13 Oct 2005

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16225923
DOI: 10.1016/j.ophtha.2005.07.002

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Related research

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Novel NR2E3 Mutations (R104Q, R334G) Associated with a Mild Form of Enhanced S-Cone Syndrome Demonstrate Compound HeterozygosityPMID 16225923Read ↗

Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.Semantic proximity Read ↗

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.Semantic proximity Read ↗

Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype.Semantic proximity Read ↗

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NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).Semantic proximity Read ↗

Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.Semantic proximity Read ↗

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.Semantic proximity Read ↗

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A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.Semantic proximity Read ↗

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