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. 1995 Apr;32(4):312–313. doi: 10.1136/jmg.32.4.312

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

T Attié 1, M Till 1, A Pelet 1, P Edery 1, J P Bonnet 1, A Munnich 1, S Lyonnet 1
PMCID: PMC1050384  PMID: 7643365

Abstract

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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