Kalscheuer, Vera Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
http://www.ncbi.nlm.nih.gov/pubmed/28612833 (Any fulltext)
Carroll.pdf (Publisher version), 945KB
Carroll, R., Kumar, R., Shaw, M., Slee, J., Kalscheuer, V., Corbett, M. A., et al. (2017). Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European journal of human genetics, 25(9), 1078-1082. doi:10.1038/ejhg.2017.97.