Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy
Liesbeth Spruijt, Dinanda N Kolbach, I.F.M. de Coo, Astrid S. Plomp, Noël J.C. Bauer, Hubertus J. Smeets, Christine E.M. de Die-Smulders
Abstract
Liesbeth Spruijt, Dinanda N Kolbach, I.F.M. de Coo, Astrid S. Plomp, Noël J.C. Bauer, Hubertus J. Smeets, Christine E.M. de Die-Smulders
Abstract
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Key concepts: Leber's hereditary optic neuropathy, Penetrance, Medicine, Population, Optic neuropathy, Haplotype, Pediatrics, Retrospective cohort study