Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Conclusion
Our data expand the spectrum of variants and phenotypic spectrum associated with homozygous variants of SMAD6 to include craniosynostosis.

Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Luyckx, I., Walton, I. S., Boeckx, N., Van Schil, K., Pang, C., De Praeter, M., Lord, H., Watson, C. M., Bonthron, D. T., Van Laer, L., Wilkie, A. O. M., Loeys, B. Tags: Open access Genotype-phenotype correlations Source Type: research