Investigative ophthalmology & visual science۲۰۲۵۱ استنادنمایه شده در PubMed
Rola Ba-Abbad, Igor V Peshenko, Malena Daich Varela, Siying Lin, Gavin Arno, Omar A Mahroo, Catherine Egan, Anthony G Robson, Elena V Olshevskaya, Alexander M Dizhoor, Andrew R Webster
چکیده
To clinically and biochemically characterize a rare autosomal recessive rod-cone dysfunction, with electroretinographic similarities to some forms of stationary night blindness (SNB), associated with biallelic variants in GUCY2D. Six patients from five families with a history of longstanding night…
متن کامل چکیده در سایت ناشر در دسترس است.
DOI: 10.1167/iovs.66.6.22