Biallelic truncating variants in VGLL2 cause syngnathia in humans

Conclusion
Our results suggest that although loss of VGLL2 leads to a striking jaw phenotype in humans, other vertebrates may have the capacity to compensate for its absence during craniofacial development.

Source: Journal of Medical Genetics - October 24, 2023 Category: Genetics & Stem Cells Authors: Agostini, V., Tessier, A., Djaziri, N., Khonsari, R. H., Galliani, E., Kurihara, Y., Honda, M., Kurihara, H., Hidaka, K., Tuncbilek, G., Picard, A., Konas, E., Amiel, J., Gordon, C. T. Tags: Developmental defects Source Type: research