An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
Alessandro Orsini(University of Pisa), Alice Bonuccelli(University of Pisa), Benedetta Toschi(Ospedale Santa Chiara), Francesco Massart(University of Pisa), Thomas Foiadelli(Policlinico San Matteo Fondazione), Diego Peroni, Silvia Romano, Alessandra Carmignani(Ospedale Santa Chiara), Alessandro Ferretti(Epilepsy Action), Andrea Santangelo(University of Pisa), Anna Camporeale(Ospedale Santa Chiara), Nina Tyutyusheva(Ospedale Santa Chiara)
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