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Overgrowth syndromes are a group of rare disorders characterized by tissue hypertrophy.
Some of these syndromes have been attributed to post-zygotic (somatic) mutations in
the phosphatidylinositol-3-kinase (PI-3K)/Akt1 pathway that may occur in distinct
cell lineages during embryonic development, thus leading to mosaicism of pathogenic
mutations in this pathway. We describe three patients with overgrowth syndromes whose
diagnosis was confirmed by demonstration of somatic and mosaic mutations in PI3-Kinase
catalytic subunit alpha (PIK3CA) and Akt1.
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