SOX10 mutations in patients with Waardenburg-Hirschsprung disease

  title={SOX10 mutations in patients with Waardenburg-Hirschsprung disease},
  author={V{\'e}ronique Pingault and Nad{\'e}ge Bondurand and Kirsten Kuhlbrodt and Derk E. Goerich and M. O. Prehu and Aldamaria Puliti and Beate Herbarth and Irm Hermans-Borgmeyer and Eric Legius and Gert Matthijs and Jeanne Amiel and Stanislas Lyonnet and Isabella Ceccherini and Giovanni Romeo and Jill Clayton Smith and Andrew P. Read and Michael Wegner and Michel Goossens},
  journal={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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