Kornak, Uwe Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Ramirez, A., Faupel, J., Goebel, I., Stiller, A., Beyer, S., Stockle, C., et al. (2004). Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Human Mutation, 23(5), 471-476. doi:10.1002/humu.20028.