SOX10 mutations in patients with Waardenburg-Hirschsprung disease

@article{Pingault1998SOX10MI,
  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},
  year={1998},
  volume={18},
  pages={171-173}
}
  • 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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    References

    SHOWING 1-10 OF 30 REFERENCES
    Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
    • 415
    Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    • 576
    SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    • 681
    • PDF
    Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • 650
    Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
    • 238
    Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype
    • 85
    A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
    • 291
    • PDF
    An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    • 421
    A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
    • 830
    Abnormal microenvironmental signals underlie intestinal aganglionosis in Dominant megacolon mutant mice.
    • 52