GenomicsbioRxivPreprint
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
Naama Hirsch, Idit Dahan, Eva D’haene…·Ramon Y. Birnbaum
The paper identifies structural variants in HDAC9 that disrupt TWIST1 regulatory elements, causing craniofacial and limb malformations through altered transcriptional regulation.
15 citations