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Letter
Nature Genetics 12, 442–444 (1 April 1996) | doi:10.1038/ng0496-442
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
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Abstract
Hirschsprung disease (HSCR) and Waardenburg syndrome (WS) are congenital malformations regarded as neurocristopathies since both disorders involve neural crest-derived cells1–3. The WS-HSCR association (Shah-Waardenburg syndrome)4 is a rare autosomal recessive condition that occasionally has been ascribed to mutations of the endothelin-receptor B (EDNRB) gene5,6.
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