Associated Papers
Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
Lee YJ et al.
American Journal of Ophthalmology, 2025
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
Hosono K et al.
Scientific Reports, 2018
29844330 (PubMed )
Supplement: 41598_2018_26524_MOESM1_ESM.docx
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Han J et al.
Molecular Vision, 2017
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