CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Simona Amenta, Giuseppe Marangi, Daniela Orteschi, Silvia Frangella, Fiorella Gurrieri, Elisa Paccagnella, Telethon Undiagnosed Diseases Program (TUDP) Study Group, Annalaura Torella, Gerarda Cappuccio, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Nicola Brunetti‐Pierri, Sandro Banfi, Martino Montomoli, Donatella Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Marcello Scala, Ferruccio Romano, Valeria Capra, Vincenzo Nigro, Marcella Zollino