Abstract
This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).
© 2011 Wiley Periodicals, Inc.
MeSH terms
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Abnormalities, Multiple / genetics*
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Cleft Lip / genetics*
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Cleft Palate / genetics*
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Cysts / genetics*
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Family Health
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Humans
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Infant
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Interferon Regulatory Factors / genetics*
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Lip / abnormalities
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Male
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Mutation, Missense*
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Pedigree
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Phenotype
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Twins
Substances
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IRF6 protein, human
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Interferon Regulatory Factors