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Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
  1. T Attié,
  2. M Till,
  3. A Pelet,
  4. P Edery,
  5. J P Bonnet,
  6. A Munnich,
  7. S Lyonnet
  1. Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Paris, France.


    The RET and the Pax 3 genes have recently been shown to account for autosomal dominant Hirschsprung's disease (HSCR) and Waardenburg syndrome type 1 (WS1) respectively, which led us to consider them as candidate genes in the WS/HSCR association. Linkage analyses performed in a consanguineous WS/HSCR family support the view that neither the RET locus nor the Pax 3 locus are involved in the disease phenotype. Hence, at least one further locus altering neural crest cell development is responsible for the pleiotropic features observed in the WS/HSCR association.

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