Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

Conclusion
GINS2 is a new disease-associated gene, expanding the genetic aetiology of MGORS.

Source: Journal of Medical Genetics - July 21, 2022 Category: Genetics & Stem Cells Authors: Nabais Sa, M. J., Miller, K. A., McQuaid, M., Koelling, N., Wilkie, A. O. M., Wurtele, H., de Brouwer, A. P. M., Oliveira, J. Tags: Open access Genotype-phenotype correlations Source Type: research