Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

Klein SD, Nguyen DC, Bhakta V, Wong D, Chang VY, Davidson TB, Martinez-Agosto JA
Am J Med Genet A. 2019 Dec;179(12):2517-2531. doi: 10.1002/ajmg.a.61368. Epub 2019 Oct 22. PubMed Article

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