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pro vyhledávání: '"Nicolás Curbelo"'
Autor:
Natalia Pi-Denis, Lucía Pastro, Gabriel Peluffo, Nicolás Curbelo, Alejandra Vomero, Leda Roche, María Boidi, Víctor Raggio, Martin Ciganda, Alejandra Tapié, Jorge Souto
Publikováno v:
COLIBRI
Universidad de la República
instacron:Universidad de la República
Clinical Case Reports
Universidad de la República
instacron:Universidad de la República
Clinical Case Reports
Key Clinical Message Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X‐linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performe