@article{lee2020mutations, author = "Y.-R. Lee and K. Khan and K. Armfield-Uhas and S. Srikanth and N. A. Thompson and M. Pardo and L. Yu and J. W. Norris and Y. Peng and K. W. Gripp and others", title = "Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy", year = 2020, journal = "Nature communications", publisher = "Nature Publishing Group", volume = 11, number = 1, pages = "1-17" }