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16p12.1 deletion orthologs are expressed in motile neural crest cells and are important for regulating craniofacial development in <i>Xenopus laevis</i>

2020-12-11

Abstract excerpt

Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) that results in a hemizygous deletion of multiple genes at chromosome 16p12.1. In addition to ID, individuals with this deletion display a variety of symptoms including...

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Literature Corpus work
15833099-93f1-52fd-adf0-eda45ff1f1ad
DOI
10.1101/2020.12.11.421347
Open publication

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