Clinical and molecular data in case of prenatal localized overgrowth disorders: major implication of genetic variants in the PI3K-AKT-mTOR signaling pathway.

Nicolas BourgonV CarmignacA SorlinY DuffourdC PhilippeC Thauvin-RobinetLaurent GuibaudL FaivreP VabresP Kuentznull null

Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2021)

Isolated MEG or HMEG led to the identification of genetic variants in the PI3K-AKT-mTOR signaling pathway. Prenatally diagnosed cases of LO and LM were associated with PIK3CA variants. This article is protected by copyright. All rights reserved.

Keyphrases

signaling pathway
pi k akt
epithelial mesenchymal transition
induced apoptosis
pregnant women
copy number
electronic health record
big data
cell proliferation
machine learning
dna methylation
single molecule
oxidative stress
protein kinase
artificial intelligence