New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
Vanessa Luiza Romanelli TavaresSofia Ligia Guimarães-RamosYan ZhouCibele MasottiSuzana EzquinaDanielle de Paula MoreiraHenk BuermansRenato S FreitasJohan T Den DunnenStephen R F TwiggMaria Rita Passos-BuenoPublished in: Journal of medical genetics (2021)
Our findings support the hypothesis that the 430 kb duplication is causative of the ARCND phenotype in this family and that deregulation of TWIST1 expression during craniofacial development can contribute to the phenotype.