Associated Papers
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.
Kayazawa T et al.
Ophthalmic Genetics, 2022
35026968 (PubMed )
Supplement: supplement_1.pdf
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.
Weisschuh N et al.
Plos One, 2018
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Siemiatkowska AM et al.
Molecular Vision, 2014
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