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Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.

Elisabetta IndelicatoSylvia BoeschManuela BaumgartnerBarbara PleckoJuliane WinkelmannMichael Zech
Published in: Movement disorders : official journal of the Movement Disorder Society (2022)
Keyphrases
  • deep brain stimulation
  • early onset
  • copy number
  • intellectual disability
  • muscular dystrophy
  • gene expression
  • autism spectrum disorder