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First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.

Korbinian Maria RiedhammerGloria Sarah LeszinskiStephanie AndresGertrud Strobl-WildemannMatias Wagner
Published in: Movement disorders : official journal of the Movement Disorder Society (2018)
Keyphrases
  • deep brain stimulation
  • early onset
  • copy number
  • intellectual disability
  • case report
  • gene expression
  • dna methylation