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

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 , Pr THAUVIN-ROBINET Christel , Pr KUENTZ Paul

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

https://www.ncbi.nlm.nih.gov/pubmed/34170046

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;: