Pelizaeus–Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation - Scala, Marcello; Traverso, Monica; Capra, Valeria; Vari, Maria Stella; Severino, Mariasavina; Grossi, Serena; Zara, Federico; Striano, Pasquale; Minetti, Carlo (Neuropediatrics, 2019)