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Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.

René Günther FeichtingerMartin PreiselKarin BruggerSaskia B WortmannJohannes Adalbert Mayr
Published in: Genes (2023)
as a novel gene for neurodevelopmental disorders with autism.
Keyphrases
  • case report
  • autism spectrum disorder
  • intellectual disability
  • copy number
  • genome wide
  • congenital heart disease
  • genome wide identification
  • gene expression