ALX1-related Frontonasal Dysplasia Results From Defective Neural Crest Cell Development and Migration
J. Pini, J. Kueper, Y. Hu, K. Kawasaki, P. Yeung, C. Tsimbal, B. Yoon, N. Carmichael, R. Maas, J. Cotney, J. Grinblat, E. C. Liao
This study identifies a pathogenic ALX1 variant causing frontonasal dysplasia by impairing neural crest cell development and migration, with in vivo and in vitro evidence supporting the mechanism.
bioRxiv · Jun 12, 2020Cell Biology