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