Associated Papers
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Issa S et al.
Human Mutation, 2017
Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients.
Abe Y et al.
Biochemical and Biophysical Research Communications, 2000
Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.
Sakai T et al.
European Journal of Pediatrics, 2000
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Hofstra RM et al.
Nature Genetics, 1996
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