Zarate, Yuri A <br/><br/>
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  06 2019 
 - 1047-1052 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.61145  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cardiovascular Abnormalities--diagnosis<br/>Energy Metabolism<br/>Facies<br/>Female<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Growth Disorders--complications<br/>Humans<br/>Magnetic Resonance Imaging<br/>Phenotype<br/>Phosphatidylinositol 3-Kinases--metabolism<br/>Phosphorylation<br/>Proto-Oncogene Proteins c-akt--metabolism<br/>Receptor, Platelet-Derived Growth Factor beta--genetics<br/>Signal Transduction<br/>Exome Sequencing<br/>Young Adult