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Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, <i>FOXG1</i>

2025-04-17

Abstract excerpt

Up to 17% of neurodevelopmental disorders (NDDs) can be explained by pathogenic structural variants (SVs) that disrupt coding regions and elicit gene dosage defects. However, noncoding SVs which can perturb cis -regulatory elements (CREs) and downstream gene expression are understudied. In this study, we describe multiple 14q12 deletions downstream of NDD-related gene FOXG1 in individuals with overlapping phenot...

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Literature Corpus work
800e4e2d-48cc-57bf-b4fc-83a99e49bf7f
DOI
10.1101/2025.04.11.648472
Open publication

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