Article

<i>HDAC9</i> structural variants disrupting <i>TWIST1</i> transcriptional regulation lead to craniofacial and limb malformations

2021-08-11

Abstract excerpt

Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also function as cis-regulatory elements remain largely uncharacterized. Here, we show that craniosynostosis patients with SVs containing the Histone deacetylase 9 ( HDAC9 ) protein-coding sequence are associated with disruption of TWIST1 regulatory elements tha...

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Literature Corpus work: 8383547a-822e-5a59-ac2d-0a446726a92c
DOI: 10.1101/2021.08.10.455254

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