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 RisticPublished in: Children (Basel, Switzerland) (2022)
mutation.