New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Titel:
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Auteur:
Martín-Hernández, Elena Rodríguez-García, María Elena Camacho, Ana Matilla-Dueñas, Antoni García-Silva, María Teresa Quijada-Fraile, Pilar Corral-Juan, Marc Tejada-Palacios, Pilar Las Heras, Rogelio Simón de Arenas, Joaquín Martín, Miguel A. Martínez-Azorín, Francisco