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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Consanguinity
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DNA, Satellite
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DNA-Binding Proteins / genetics*
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Family Health
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Female
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Gene Frequency
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Genes, Dominant
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Genetic Linkage
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Genetic Markers
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Haplotypes
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Hirschsprung Disease / complications*
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Hirschsprung Disease / genetics*
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Humans
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Infant
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Infant, Newborn
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Male
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PAX3 Transcription Factor
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Paired Box Transcription Factors
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Pedigree
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Proto-Oncogenes / genetics*
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Transcription Factors*
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Waardenburg Syndrome / complications*
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Waardenburg Syndrome / genetics*
Substances
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DNA, Satellite
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DNA-Binding Proteins
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Genetic Markers
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PAX3 Transcription Factor
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PAX3 protein, human
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Paired Box Transcription Factors
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Transcription Factors
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Pax3 protein, mouse