Disease | hemimegalencephaly |
Phenotype | C0085261|proteus syndrome |
Sentences | 2 |
PubMedID- 23297823 | We also highlight new findings regarding the involvement of activating mutations of akt1, akt2, and akt3 in somatic overgrowth disorders: proteus syndrome, hypoglycemia with hypertrophy, and hemimegalencephaly, respectively. |
PubMedID- 23883617 | Tau-degradation is in part regulated by the akt family of genes [139]; akt1 is mutated in proteus syndrome, often with hemimegalencephaly, and akt3 is altered in non-proteus hme. |
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