Article

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development

2022-07-05

Abstract excerpt

<title>Abstract</title> Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are a collection of rare disorders with complex etiology. In this study, we investigated the less understood genomic overlap of copy number variants (CNVs) in two large cohorts of NDD and CA patients to identify <italic>de novo</italic> CNVs and candidate genes associated to both NDD and CA phenotypes. We analyzed clinic...

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Literature Corpus work: 09eba2dc-41d3-5ce4-a2af-4cfd5c72b527
DOI: 10.21203/rs.3.rs-1780593/v1

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