De novo mutations in the CRX homeobox gene associated with leber congenital amaurosis

Freund, C. L., Wang, Q. L., Chen, S., Muskat, B. L., Wiles, C. D., Sheffield, V. C., … Stone, E. M. (1998). De novo mutations in the CRX homeobox gene associated with leber congenital amaurosis. Nature Genetics. https://doi.org/10.1038/ng0498-311