Article
Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
Ophthalmic genetics - 1 Dec 2019
Ivanova Marianna E, Zolnikova Inna V, Gorgisheli Ketevan V, Atarshchikov Dmitry S, Ghosh Preetam, Barh Debmalya
Abstract excerpt
Background: The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very rare genetic disease caused by mutation in the NYX gene. CSNB1A-associated several mutations in the NYX gene have been reported earlier.Methods: In this case report, we have clinically diagnosed and genetically confirmed a novel mutation associated with CSNB1A in four members of a Russian family. Two male siblings...
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