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Getting to the heart of DiGeorge syndrome

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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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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