Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
Conclusions: This is probably the first case report with a novel mutation from Russia associated with CSNB1A.
PMID: 31826698 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
More News: Blindness | Boys | Genetics | Girls | Myopia (short sighted) | Ophthalmoscopy | Opthalmology | Russia Health