Vámos Rita; Kulm M; Szabó Viktória; Ahman A; Lesch Balázs; Schneider Miklós; Varsányi Balázs; Nagy Zoltán Zsolt; Németh János Tibor; Farkas Ágnes
(2016)
PURPOSE: To introduce the first Hungarian patients with genetically defined Leber congenital amaurosis (LCA) and to report 2 novel mutations. METHODS: Seven otherwise healthy patients (4-29 years, 5 male and 2 female) who ...