A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
- 1 April 1996
- journal article
- case report
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 12 (4), 445-447
- https://doi.org/10.1038/ng0496-445
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neuronsCell, 1994
- Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in miceCell, 1994
- A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's diseaseCell, 1994
- Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) geneNature Genetics, 1994
- ECE-1: A membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1Cell, 1994
- Mutations of the RET proto-oncogene in Hirschsprung's diseaseNature, 1994
- Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's diseaseNature, 1994
- Heterogeneity and Low Detection Rate of RET Mutations in Hirschsprung DiseaseEuropean Journal of Human Genetics, 1994
- The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes.Proceedings of the National Academy of Sciences of the United States of America, 1989
- The association of Waardenburg syndrome and Hirschsprung megacolonAmerican Journal of Medical Genetics, 1979