New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements

Conclusion
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.

Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Romanelli Tavares, V. L., Guimaraes-Ramos, S. L., Zhou, Y., Masotti, C., Ezquina, S., Moreira, D. d. P., Buermans, H., Freitas, R. S., Den Dunnen, J. T., Twigg, S. R. F., Passos-Bueno, M. R. Tags: Open access Novel disease loci Source Type: research