Login / Signup

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.

Eva Albertsen MaltKatalin JuhaszAnna FrengenTeresia WangensteenNina Merete EmilsenBorre HansenOleg AgafonovHilde Loge Nilsen
Published in: Molecular genetics & genomic medicine (2019)
3q29 deletion carriers may undergo developmental phenotypic transition and need regular medical follow-up. Identified risk variants in the remaining hemizygous allele should be explored further in autism and schizophrenia research.
Keyphrases
  • copy number
  • bipolar disorder
  • genome wide
  • autism spectrum disorder
  • healthcare
  • intellectual disability
  • dna methylation
  • gene expression
  • transcription factor
  • genome wide analysis