Novel mutation identified in Leber congenital amaurosis-a case report

Sato, S; Morimoto, T; Tanaka, S; Hotta, K; Fujikado, T; Tsujikawa, M; Nishida, K

Sato, S (corresponding author), Osaka Univ, Grad Sch Med, Dept Ophthalmol, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan.; Sato, S (corresponding author), Osaka Univ, Lab Regenerat Med & Dev, Grad Sch Med, Osaka, Japan.

BMC OPHTHALMOLOGY, 2020; 20 (1):

Abstract

Background Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characteri......

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