Condition: Goldmann-Favre syndrome (disorder)


rs28937873 in NR2E3 gene and Goldmann-Favre syndrome (disorder) PMID 19823680 2009 Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 18835469 2009 Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.

PMID 17438525 2007 The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 28944237 2017 Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

PMID 19139342 2009 A fifth patient, a 10-year-old boy with heterozygotic mutations R311Q and delF71, had diminished foveal reflexes and subtle pigmentary changes, perhaps a forme fruste of Goldmann-Favre syndrome.

PMID 26894784 2016 Macular cystoid spaces in patients with retinal dystrophy.

PMID 27874104 2016 Identifying mutations in Tunisian families with retinal dystrophy.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

PMID 16024868 2005 An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.

PMID 26355662 2016 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

PMID 19273793 2009 The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.