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Graefes Arch Clin Exp Ophthalmol
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature
- A. Hedergott
- A.E. Volk
- P. Herkenrath
- H. Thiele
- J. Fricke
- J. Altmüller
- P. Nürnberg
- C. Kubisch
- A. Neugebauer