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Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes (Basel) 2021;12:1261. [PMID: 34440435 DOI: 10.3390/genes12081261][Reference Citation Analysis]
Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K, Shimojo H, Iwata T, Kusaka S. Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review. Ophthalmic Genet 2022;:1-9. [PMID: 35026968 DOI: 10.1080/13816810.2021.2023195][Reference Citation Analysis]