Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant

por Troncoso, Mónica, Balut, Fernanda, Witting, Scarlet, Rubilar, Carla, Carrera, Jorge, Cartes, Fabiola, Herrera, Luisa
Publicado 2021