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Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.

Ioannis PapoulidisMakarios EleftheriadesEmmanouil ManolakosMichael B PetersenSimoni Marina LiappiAnastasia KonstantinidouMaria PapamichailVassilios PapadopoulosAntonios GarasSotirios SotiriouIoannis PapastefanouGeorgios DaskalakisAleksandar Ristic
Published in: Children (Basel, Switzerland) (2022)
mutation.
Keyphrases
  • intellectual disability
  • copy number
  • zika virus
  • pregnant women
  • genome wide
  • autism spectrum disorder
  • gene expression
  • dna methylation
  • circulating tumor
  • bioinformatics analysis