SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

  title={SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism},
  author={V. Pingault and M. Girard and N. Bondurand and H. Dorkins and L. van Maldergem and D. Mowat and T. Shimotake and I. Verma and C. Baumann and M. Goossens},
  journal={Human Genetics},
  • V. Pingault, M. Girard, +7 authors M. Goossens
  • Published 2002
  • Biology, Medicine
  • Human Genetics
  • Abstract. The type IV Waardenburg syndrome (WS4), also referred to as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung disease, is characterised by the association of Waardenburg features (WS, depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Mutations in the EDN3, EDNRB, and SOX10 genes have been reported in this syndrome. Recently, a new SOX10 mutation was observed in a girl with a neural crest disorder without… CONTINUE READING
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