Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
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DOI: 10.1038/s41431-021-01012-7
Abstract: Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid aneuploidy detection and microarray analysis. We present a retrospective study of 90 fetuses with different abnormal ultrasound… read more here.
Keywords: causing variants; novel disease; singleton exome; disease ... See more keywords