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Enhancer mutations and phenotype modularity

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Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.

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Authors and Affiliations

  1. Christopher T. Gordon and Stanislas Lyonnet are at University Paris Descartes–Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hôpital Necker–Enfants Malades, Paris, France.,

    Christopher T Gordon & Stanislas Lyonnet

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  1. Christopher T Gordon
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  2. Stanislas Lyonnet
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Correspondence to Stanislas Lyonnet.

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The authors declare no competing financial interests.

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Gordon, C., Lyonnet, S. Enhancer mutations and phenotype modularity. Nat Genet 46, 3–4 (2014). https://doi.org/10.1038/ng.2861

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