SOX10 mutations in patients with Waardenburg-Hirschsprung disease

  title={SOX10 mutations in patients with Waardenburg-Hirschsprung disease},
  author={V. Pingault and N. Bondurand and K. Kuhlbrodt and D. Goerich and M. Pr{\'e}hu and A. Puliti and B. Herbarth and I. Hermans-Borgmeyer and Eric Legius and G. Matthijs and J. Amiel and S. Lyonnet and I. Ceccherini and G. Romeo and J. Smith and A. Read and M. Wegner and M. Goossens},
  journal={Nature Genetics},
  • V. Pingault, N. Bondurand, +15 authors M. Goossens
  • Published 1998
  • Biology, Medicine
  • Nature Genetics
  • Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective function of the embryonic neural crest1,2. WS and HSCR are associated in patients with Waardenburg-Shah syndrome (WS4), whose symptoms are reminiscent of the white coat-spotting and aganglionic megacolon displayed by the mouse mutants Dom (Dominant megacolon), piebald-lethal (sl) and lethal spotting (Is). The sl and Is phenotypes… CONTINUE READING
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