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Keywords: Waardenburg/Hirschsprung disease
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Journal Articles
Journal: Development
Development (2001) 128 (20): 3949–3961.
Published: 15 October 2001
... are missing in mice homozygous for Sox10 mutations. Moreover, haploinsufficiency of Sox10 results in neural crest defects that cause Waardenburg/Hirschsprung disease in humans. We provide evidence that the cellular basis to these phenotypes is likely to be a requirement for Sox10 by neural crest stem cells...