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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

María-Isabel TejadaXabier ElcoroaristizabalNekane IbarluzeaMaría-Pilar BotellaAna-Belén de la HozIntzane Ocio
Published in: Clinical genetics (2018)
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • copy number
  • genome wide
  • genome wide identification
  • genome wide analysis
  • dna methylation