Overgrowth syndromes: Is dysfunctional PI3-kinase signalling a unifying mechanism?

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Abstract

Studies in drosophila and animal models have shown that the phosphoinositide-3-kinase (PI3-kinase) axis plays a central role in normal development, defining the number and size of cells in tissues. Dysfunction of this pathway leads to growth anomalies and has been established to play a key role in the pathogenesis of Cowden syndrome and tuberous sclerosis. It is probable that dysfunction of this pathway is the basis of other disorders especially those typified by asymmetric overgrowth.

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Barker, K. T., & Houlston, R. S. (2003). Overgrowth syndromes: Is dysfunctional PI3-kinase signalling a unifying mechanism? European Journal of Human Genetics, 11(9), 665–670. https://doi.org/10.1038/sj.ejhg.5201026

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