1. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus–Merzbacher disease in a girl. (16th March 2012) Authors: Fonseca, ACS; Bonaldi, A; Costa, SS; Freitas, MR; Kok, F; Vianna‐Morgante, AM Journal: Clinical genetics Issue: Volume 83:Number 2(2013:Feb.) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗