1996-04-01
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
Publication
Publication
Nature Genetics , Volume 12 - Issue 4 p. 445- 447
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doi.org/10.1038/ng0496-445, hdl.handle.net/1765/54507 | |
Nature Genetics | |
Organisation | 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 |