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Article

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.

Acta ophthalmologica - 1 Jun 2018

Mahajan Deepti, Votruba Marcela

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Share to Electrooculography
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Share to Evoked Potentials, Visual
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29193891
DOI: 10.1111/aos.13629

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A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.PMID 29193891Read ↗

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The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.Semantic proximity Read ↗

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.Semantic proximity Read ↗

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.Semantic proximity Read ↗

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and DiseaseSemantic proximity Read ↗

Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.Semantic proximity Read ↗

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis PigmentosaSemantic proximity Read ↗

Phenotypic features of patients with NR2E3 mutations.Semantic proximity Read ↗

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.Semantic proximity Read ↗

Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.Semantic proximity Read ↗

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