SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

@article{SouthardSmith1998SOX10MD,
  title={SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model},
  author={E. M. Southard-Smith and L. Kos and W. Pavan},
  journal={Nature Genetics},
  year={1998},
  volume={18},
  pages={60-64}
}
  • E. M. Southard-Smith, L. Kos, W. Pavan
  • Published 1998
  • Biology, Medicine
  • Nature Genetics
  • Hirschsprung disease (HSCR, MIM ♯142623) is a multigenic neuocristopathy (neural crest disorder) characterized by absence of enteric ganglia in a variable portion of the distal colon. Subsets of HSCR individuals also present with neural crest-derived melanocyte deficiencies (Hirschsprung-Waardenburg, HSCR-WS, MIM ♯277580). Murine models have been instrumental in the identification and analysis of HSCR disease genes. These include mice with deficiencies of endothelin B receptor (Ednrbs–l refs 1… CONTINUE READING
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