Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Alessandra Torraco, Anna Ardissone, Federica Invernizzi, Teresa Rizza, Giuseppe Fiermonte, Marcello Niceta, Nadia Zanetti, Diego Martinelli, Angelo Vozza, Daniela Verrigni, Michela Di Nottia, Eleonora Lamantea, Daria Diodato, Marco Tartaglia, Carlo Dionisi-Vici, Isabella Moroni, Laura Farina, Enrico Bertini, Daniele Ghezzi, Rosalba Carrozzo

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Medicine & Life Sciences