Clinical and molecular data in case of prenatal localized overgrowth disorders: major implication of genetic variants in the PI3K-AKT-mTOR signaling pathway.
Fiche publication
Date publication
juin 2021
Journal
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr PHILIPPE Christophe, Pr VABRES Pierre
Tous les auteurs :
Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P,
Lien Pubmed
Résumé
To describe clinical and molecular findings in fetuses with localized overgrowth disorders (LOD) involving the brain (BO) and/or a limb (LO) diagnosed on prenatal imaging (ultrasonography or MRI), suggesting involvement of the PI3K-AKT-mTOR signaling pathway.
Mots clés
Localized overgrowth disorders, PI3K-AKT-mTOR, cultured amniocytes, genetic counselling, postzygotic, prenatal diagnosis
Référence
Ultrasound Obstet Gynecol. 2021 Jun 25;: