George J Manayath Prasanthi Namburi Sundaresan Periasamy Jeevan A Kale Venkatapathy Narendran Anuradha Ganesh
Mol Vis
2014 May 29;20:724-31.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/24891813/
Eye Diseases, Hereditary / genetics Genetic Association Studies Genetic Predisposition to Disease Mutation / genetics Orphan Nuclear Receptors / genetics Retinal Degeneration / genetics Retinal Neoplasms / blood supply Retinal Neoplasms / genetics Vision Disorders / genetics
Eye Diseases, Hereditary / genetics Genetic Association Studies Genetic Predisposition to Disease Mutation / genetics Orphan Nuclear Receptors / genetics Retinal Degeneration / genetics Retinal Neoplasms / blood supply Retinal Neoplasms / genetics Vision Disorders / genetics Case Reports Adult Amino Acid Sequence Conserved Sequence Electroretinography Evolution, Molecular Eye Diseases, Hereditary / physiopathology Family Female Fluorescein Angiography Fundus Oculi Humans Male Molecular Sequence Data Orphan Nuclear Receptors / chemistry Pedigree Retinal Degeneration / physiopathology Vision Disorders / physiopathology NR2E3 protein, human Orphan Nuclear Receptors Enhanced S-Cone Syndrome
PMC4039415
24891813
A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina
2014