Clara J Men Kinga M Bujakowska Jason Comander Emily Place Emma C Bedoukian Xiaosong Zhu Bart P Leroy Anne B Fulton Eric A Pierce
Mol Vis
2017 Oct 10;23:695-706.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29062221/
Calcium Channels, L-Type / genetics Diagnostic Errors Eye Diseases, Hereditary / diagnosis Genetic Diseases, X-Linked / diagnosis Leber Congenital Amaurosis / diagnosis Myopia / diagnosis Night Blindness / diagnosis Point Mutation
Calcium Channels, L-Type / genetics Diagnostic Errors Eye Diseases, Hereditary / diagnosis Genetic Diseases, X-Linked / diagnosis Leber Congenital Amaurosis / diagnosis Myopia / diagnosis Night Blindness / diagnosis Point Mutation Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't DNA Mutational Analysis Electroretinography Exome Eye Diseases, Hereditary / genetics Genetic Diseases, X-Linked / genetics Genetic Testing High-Throughput Nucleotide Sequencing Humans Infant Leber Congenital Amaurosis / genetics Male Myopia / genetics Night Blindness / genetics Nystagmus, Pathologic / diagnosis Refractive Errors / diagnosis Visual Field Tests Visual Fields CACNA1F protein, human Calcium Channels, L-Type Night blindness, congenital stationary
PMC5640518
29062221
The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA
2017