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Fetal central nervous system anomalies: When should we offer exome sequencing?

12 Apr 2022

Abstract excerpt

OBJECTIVE: To investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies. METHODS: We reviewed trio exome sequencing (ES) results for two previously reported unselected cohorts (Prenatal Assessment of Genomes and Exomes (PAGE) and CUIMC) to identify fetuses with CNS anomalies with unremarkable karyotypes and chromosomal...

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PMID: 35411553
DOI: 10.1002/pd.6145

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