No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Child
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Consanguinity
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DNA Mutational Analysis
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Endothelin-3 / genetics
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Genetic Heterogeneity*
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Genotype
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Hirschsprung Disease / complications
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Hirschsprung Disease / diagnosis
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Hirschsprung Disease / genetics
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Humans
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Male
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Models, Biological
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Molecular Sequence Data
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Pedigree
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Phenotype*
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SOXE Transcription Factors / genetics
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Waardenburg Syndrome / classification
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Waardenburg Syndrome / complications
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Waardenburg Syndrome / diagnosis*
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Waardenburg Syndrome / genetics*
Substances
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Endothelin-3
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SOX10 protein, human
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SOXE Transcription Factors