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Getting to the heart of DiGeorge syndrome

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Abstract

Mice genetically engineered to mimic human DiGeorge syndrome provide clues to the genetic basis of this chromosomal deletion syndrome and question UFD1L as the sole candidate gene.

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Figure 1: Contribution of neural crest cells to the embryonic structures affected in DiGeorge syndrome.
Figure 2: The human region on chromosome 22q11 commonly deleted in DGS patients and the orthologous region in mice on chromosome 16 are very similar in gene content but show a different genomic organization9.

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Authors and Affiliations

  1. Cardiovascular Division Beth Israel Deaconess Medical Center Harvard Medical School, 330 Brookline Ave., Boston, 02215, Massachusetts, USA

    Martina Schinke & Seigo Izumo

Authors
  1. Martina Schinke
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  2. Seigo Izumo
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Schinke, M., Izumo, S. Getting to the heart of DiGeorge syndrome. Nat Med 5, 1120–1121 (1999). https://doi.org/10.1038/13438

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