Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F

Archivos de la Sociedad Española de Oftalmología - Tập 95 - Trang 607-610 - 2020
J. Galindo-Bocero1, S. Macías-Franco2, N. García-González3, C. Valles-Antuña4, I. Hernando Acero3, P. Rozas-Reyes2
1Servicio de Oftalmología, Fundación Hospital de Jove, Gijón, Asturias, España
2Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España
3Unidad de Genética, Área de Gestión Clínica de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Asturias, España
4Servicio de Neurofisiología Clínica, Hospital Universitario Central de Asturias, Oviedo, Asturias, España

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