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Article

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

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Apr 2022

Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P

Abstract excerpt

OBJECTIVES: To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality and suspicion of a localized overgrowth disorder (LOD) suggestive of genetic variants in the PI3K-AKT-mTOR signaling pathway. METHODS: We analyzed retrospectively data obtained between 1 January 2013 and 1 May 2020 from fetuses with brain and/or limb overgrowth...

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PMID: 34170046
DOI: 10.1002/uog.23715

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