HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
Naama Hirsch, Idit Dahan, Eva D’haene, Matan Avni, Sarah Vergult, Marta Vidal‐García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández‐Jaén, Olson J. Rory, Benedikt Hallgrímsson, Ramon Y. Birnbaum
The paper identifies structural variants in HDAC9 that disrupt TWIST1 regulatory elements, causing craniofacial and limb malformations through altered transcriptional regulation.
bioRxiv · Aug 10, 2021 · PreprintGenomics