Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report: BMC Medical Genomics

F. Peluso, V. Palazzo, G. Indolfi, F. Mari, R. Pasqualetti, E. Procopio, C. Nesti, R. Guerrini, F. Santorelli, S. Giglio

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