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Cohesin embraces new phenotypes

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A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.

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Figure 1: Cohesin structural and regulatory components and functions.

Katie Vicari/Nature Publishing Group

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Authors and Affiliations

  1. Ian D. Krantz is in the Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.,

    Ian D Krantz

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  1. Ian D Krantz
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Correspondence to Ian D Krantz.

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Krantz, I. Cohesin embraces new phenotypes. Nat Genet 46, 1157–1158 (2014). https://doi.org/10.1038/ng.3123

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