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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Laura SpinelliFiona M BlackJonathan N BergBritta J EickholtNicholas R Leslie
Published in: Journal of medical genetics (2014)
Our work implies that alleles causing incomplete loss of PTEN function are more commonly linked to autism than to severe PHTS cases.
Keyphrases
  • autism spectrum disorder
  • intellectual disability
  • pi k akt
  • cell proliferation
  • early onset
  • signaling pathway
  • drug induced