Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Shared Mutations in NR2E3 in Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Many Cases of Clumped Pigmentary Retinal Degeneration

1 Sept 2003

Abstract excerpt

OBJECTIVES: To determine if enhanced s-cone syndrome (ESCS), Goldmann-Favre syndrome (GFS), and clumped pigmentary retinal degeneration (CPRD) are caused by mutations in the NR2E3 gene and to characterize the clinical findings in patients with NR2E3 mutations. Patients One patient with ESCS, one with GFS, and 20 with CPRD. METHODS: The coding regions of the NR2E3 and NRL genes and part of the THRB1 coding region...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments
Share to Retinopathy of Prematurity Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12963616
DOI: 10.1001/archopht.121.9.1316

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Shared Mutations in NR2E3 in Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Many Cases of Clumped Pigmentary Retinal DegenerationPMID 12963616Read ↗

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 ↗

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

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

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

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

Clinical and molecular characterization of enhanced S-cone syndrome in children.Semantic proximity Read ↗

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

A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.Semantic proximity Read ↗

A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram.Semantic proximity Read ↗

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

Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.