Maram Ea Abdalla-Elsayed Patrik Schatz Christine Neuhaus Arif O Khan
Mol Vis
2017 Nov 13;23:778-784.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29204067/
Macula Lutea / pathology Otx Transcription Factors / genetics Retinal Dystrophies / genetics Sequence Deletion
Macula Lutea / pathology Otx Transcription Factors / genetics Retinal Dystrophies / genetics Sequence Deletion Case Reports Adolescent DNA Mutational Analysis Electroretinography Exons / genetics Fluorescein Angiography Heterozygote High-Throughput Nucleotide Sequencing Humans Male Microphthalmos / diagnosis Microphthalmos / genetics Polymerase Chain Reaction Retinal Dystrophies / diagnosis Tomography, Optical Coherence OTX2 protein, human Otx Transcription Factors
PMC5693023
29204067
Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy
2017