TY  - GEN
AU  - Zarate,Yuri A
AU  - Boccuto,Luigi
AU  - Srikanth,Sujata
AU  - Pauly,Rini
AU  - Ocal,Eylem
AU  - Balmakund,Tonya
AU  - Hinkle,Kevin
AU  - Stefans,Vikki
AU  - Schaefer,Gerald B
AU  - Collins,Ronnie Thomas
TI  - Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
SN  - 1552-4833
PY  - 2020///0610
KW  - Cardiovascular Abnormalities
KW  - diagnosis
KW  - Energy Metabolism
KW  - Facies
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Growth Disorders
KW  - complications
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Phenotype
KW  - Phosphatidylinositol 3-Kinases
KW  - metabolism
KW  - Phosphorylation
KW  - Proto-Oncogene Proteins c-akt
KW  - Receptor, Platelet-Derived Growth Factor beta
KW  - genetics
KW  - Signal Transduction
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1002/ajmg.a.61145
ER  -