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The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene.

Stefano TozzaRiccardo CurròDaniele SeveriVincenzo MarcelliCarlo CavaliereGabriella EspositoRosa IodiceAndrea CorteseFiore Manganelli
Published in: Acta neurologica Belgica (2022)
Keyphrases
  • case report
  • intellectual disability
  • copy number
  • genome wide
  • dna methylation
  • gene expression
  • autism spectrum disorder
  • genome wide analysis