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
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015
NMNAT1 mutations cause Leber congenital amaurosis.
Falk MJ et al.
Nature Genetics, 2012
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