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

@article{Pingault2002SOX10MI,
  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},
  year={2002},
  volume={111},
  pages={198-206}
}
  • 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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    References

    SHOWING 1-10 OF 45 REFERENCES
    SOX10 mutations in patients with Waardenburg-Hirschsprung disease
    • 761
    Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
    • 45
    • PDF
    Waardenburg syndrome.
    • 81
    • Highly Influential
    A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
    • 103
    • PDF
    A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3/EDNRB gene mutations on neurocristopathy phenotypes?
    • 44
    Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease
    • 95
    • Highly Influential
    Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype
    • 85
    Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
    • 187
    • PDF