HIGHLIGHTS
- who: Aldesia Provenzano and collaborators from the University of Florence, Florence, Italy have published the paper: Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females, in the Journal: (JOURNAL)
- what: The authors report on a 20-week-old with a diaphragmatic hernia and other malformations all of which appeared after the first-trimester ultrasound. In this report, the authors show that trio-WES on cff-DNA is a useful approach for detecting the molecular cause of fetal congenital . . .
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