Articles with "fetus presenting" as a keyword



Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops.

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Published in 2023 at "Prenatal diagnosis"

DOI: 10.1002/pd.6386

Abstract: Trio exome sequencing was performed on a fetus presenting with severe hydrops fetalis at 21+0 weeks gestation. A novel de novo BICD2 missense variant was identified in the fetus. Pathogenic variants in the BICD2 gene… read more here.

Keywords: bicd2 gene; pathogenic variant; variant; fetus presenting ... See more keywords