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Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Marcello ScalaMonica TraversoValeria CapraMaria Stella VariMariasavina SeverinoSerena GrossiFederico ZaraPasquale StrianoCarlo Minetti
Published in: Neuropediatrics (2019)
Keyphrases
  • copy number
  • dna methylation