Orsolya Orosz Miklós Czeglédi Irén Kántor István Balogh Attila Vajas Lili Takács András Berta Gergely Losonczy
Mol Vis
2015 Feb 5;21:124-30.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/25684977/
Basic Helix-Loop-Helix Transcription Factors / genetics Mutation Night Blindness / genetics Retinal Cone Photoreceptor Cells / pathology Retinal Degeneration / genetics Retinal Rod Photoreceptor Cells / pathology
Basic Helix-Loop-Helix Transcription Factors / genetics Mutation Night Blindness / genetics Retinal Cone Photoreceptor Cells / pathology Retinal Degeneration / genetics Retinal Rod Photoreceptor Cells / pathology Case Reports Research Support, Non-U.S. Gov't Basic Helix-Loop-Helix Transcription Factors / deficiency Electroretinography Female Fovea Centralis / metabolism Fovea Centralis / pathology Fundus Oculi Homozygote Humans Night Blindness / pathology Ophthalmoscopy Phenotype Retinal Cone Photoreceptor Cells / metabolism Retinal Degeneration / pathology Retinal Rod Photoreceptor Cells / metabolism Visual Fields Young Adult Basic Helix-Loop-Helix Transcription Factors NEUROD1 protein, human
PMC4323689
25684977
Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene
2015