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Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.

S OğuzU E ArslanP Ö Ş KiperM AlikaşifoğluK BoduroğluGülen Eda Utine
Published in: Journal of intellectual disability research : JIDR (2021)
Particularly in neurodevelopmental diseases, microarrays are useful for establishing the diagnosis and detecting novel susceptibility regions. Future studies would accurately classify the herein presented variants of uncertain significance CNVs as pathogenic or benign.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • copy number
  • current status
  • case control
  • gene expression
  • congenital heart disease