Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




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.

Page: 1