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Exome sequencing improves genetic diagnosis of congenital orofacial clefts

7 Sept 2023

Abstract excerpt

Objective: This retrospective study aims to evaluate the utility of exome sequencing (ES) in identifying genetic causes of congenital orofacial clefts (OFCs) in fetuses with or without other structural abnormalities, and to further explore congenital OFCs genetic causes. Methods: The study enrolled 107 singleton pregnancies diagnosed with fetal OFCs between January 2016 and May 2022, and categorized them into two...

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PMID: 37745857
DOI: 10.3389/fgene.2023.1252823

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