doi.org/10.1038/ng0496-445, hdl.handle.net/1765/54507
Nature Genetics
Department of Clinical Genetics

Hofstra, R., Osinga, J., Tan-Sindhunata, G., Wu, Y., Kamsteeg, E.-J., Stulp, B. K., … Buys, C. H. C. M. (1996). A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genetics, 12(4), 445–447. doi:10.1038/ng0496-445