Genes commonly implicated in brain overgrowth syndromes

Genes commonly implicated in brain overgrowth syndromes

  • PIK3CA
  • AKT1
  • AKT3
  • MTOR
  • PTEN
  • TSC1 and TSC2
  • FGFR2 and FGFR3

These genes are all part of the receptor tyrosine kinase (RTK)–phosphatidylinositol-3-kinase (PI3K)–AKT signaling pathway, which is an important regulator of cell growth.

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