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- W4205523710 abstract "Leber congenital amaurosis (LCA), although rare, is one of the most severe forms of early-onset inherited retinal dystrophy (IRD). Here, we review the molecular genetics and phenotypic characteristics of patients with NMNAT1-associated IRD. The longitudinal clinical and molecular findings of a Japanese girl diagnosed with LCA associated with pathogenic variants in NMNAT1 c.648delG, (p.Trp216Ter*) and c.709C>T (p.Arg237Cys) have been described to highlight the salient clinical features of NMNAT1-associated IRD." @default.
- W4205523710 created "2022-01-25" @default.
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- W4205523710 date "2022-01-13" @default.
- W4205523710 modified "2023-10-16" @default.
- W4205523710 title "Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in <i>NMNAT1</i>: a case report and mini review" @default.
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- W4205523710 doi "https://doi.org/10.1080/13816810.2021.2023195" @default.
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