SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Marguerite HureauxSelima Ben Miled Nicolas ChatronAurelie CoussementBettina BessièresMatthieu EgloffCharlotte MechlerJulien StirnemannVassilis TsatsarisGiulia BarciaCatherine TurleauYves VilleFerechte Encha-RazaviTania Attie-BitachValérie Malan

Published in: Prenatal diagnosis (2019)

Our data demonstrate that SOX3 duplication is a genomic imbalance involved in the pathogenesis of NTDs. In addition, our survey highlights the importance of CMA testing in fetuses with NTDs to enable genetic counseling upstream of any considerations of in utero fetal surgery.

Keyphrases

copy number
transcription factor
stem cells
genome wide
gestational age
minimally invasive
coronary artery bypass
electronic health record
cross sectional
dna methylation
smoking cessation
coronary artery disease
acute coronary syndrome
hiv infected
preterm birth