Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1.
Yiu
Eppie M
EM
Farrell
Sandra A
SA
Soman
Teesta
T
D002675:Child, Preschool; D005183:Failure to Thrive; D005260:Female; D020440:Gene Duplication; D050172:Genes, X-Linked; D006801:Humans; D008279:Magnetic Resonance Imaging; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human