Article
Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
American journal of medical genetics. Part A - 1 Dec 2019
Klein Steven D, Nguyen Dzung C, Bhakta Viraj, Wong Derek, Chang Vivian Y, Davidson Tom B, Martinez-Agosto Julian A
Abstract excerpt
The hedgehog (Hh) pathway is highly conserved and required for embryonic patterning and determination. Mutations in the Hh pathway are observed in sporadic tumors as well as under syndromic conditions. Common to these syndromes are the findings of polydactyly/syndactyly and brain overgrowth. The latter is also a finding most commonly observed in the cases of mutations in the PI3K/AKT/mTOR pathway. We have...
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