Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. [electronic resource]
Producer: 20200610Description: 1047-1052 p. digitalISSN:- 1552-4833
- Cardiovascular Abnormalities -- diagnosis
- Energy Metabolism
- Facies
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Growth Disorders -- complications
- Humans
- Magnetic Resonance Imaging
- Phenotype
- Phosphatidylinositol 3-Kinases -- metabolism
- Phosphorylation
- Proto-Oncogene Proteins c-akt -- metabolism
- Receptor, Platelet-Derived Growth Factor beta -- genetics
- Signal Transduction
- Exome Sequencing
- Young Adult
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Publication Type: Case Reports; Journal Article; Review
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