Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

Romeo Carrozzo, Giulia Arrigo, Elena Rossi, Barbara Bardoni, Marina Cammarata, Paolo Gandullia, Rosanna Gatti, Orsetta Zuffardi

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Medicine & Life Sciences