Kalscheuer, V. Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;
Zhang.pdf (Publisher version), 618KB
Zhang, Z., Norris, J., Kalscheuer, V., Wood, T., Wang, L., Schwartz, C., et al. (2013). A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Human Molecular Genetics, 22(18), 3789-3797. doi:10.1093/hmg/ddt229.