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Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A. Hedergott A, et al. Among authors: fricke j. Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2239-46. doi: 10.1007/s00417-015-3174-0. Epub 2015 Oct 13. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 26464178 Review.
274 results