Prasanthi Namburi Samer Khateb Segev Meyer Tom Bentovim Rinki Ratnapriya Alisa Khramushin Anand Swaroop Ora Schueler-Furman Eyal Banin Dror Sharon
Mol Vis
2020 Apr 16;26:299-310.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/32476814/
Corneal Dystrophies, Hereditary / blood Corneal Dystrophies, Hereditary / diagnostic imaging Corneal Dystrophies, Hereditary / genetics Corneal Dystrophies, Hereditary / physiopathology Histone-Lysine N-Methyltransferase / blood Histone-Lysine N-Methyltransferase / genetics Transcription Factors / blood Transcription Factors / genetics
Corneal Dystrophies, Hereditary / blood Corneal Dystrophies, Hereditary / diagnostic imaging Corneal Dystrophies, Hereditary / genetics Corneal Dystrophies, Hereditary / physiopathology Histone-Lysine N-Methyltransferase / blood Histone-Lysine N-Methyltransferase / genetics Transcription Factors / blood Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Adult Aged, 80 and over Child Color Vision Defects / genetics Complement Factor H / chemistry Complement Factor H / genetics Electrooculography Electroretinography Exome Sequencing Female Fluorescein Angiography Genetic Testing Genotype Heterozygote Humans Jews Middle Aged Pedigree Phenotype Phylogeny Retinal Dystrophies / genetics Sequence Deletion Tomography, Optical Coherence CFH protein, human Complement Factor H Histone-Lysine N-Methyltransferase PRDM13 protein, human Transcription Factors Macular dystrophy, retinal, 1, North Carolina type
PMC7245606
32476814
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant
2020