PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl - Fonseca, Ana Carolina dos Santos; Bonaldi, Adrianao; Costa, Silvia Souza da; Freitas, M. r; Kok, Fernando; Vianna-Morgante, Angela M (Clinical Genetics, 2013)