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22q11.2 deletion — a tiny piece leading to a big picture

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New discoveries are improving our understanding of 22q11.2 deletion syndrome.

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References

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Acknowledgements

The author acknowledges the support of NIH grants: U01 MH119737-01, PO1-HD070454, RO1- GM125757, UO1-MH191719, R01 MH087636-01A1, and PO1-HD070454. She thanks her longstanding collaborators, friends, and co-authors of the 2015 Primer; K. Sullivan, B. Marino, N. Philip-Sarles, A. Swillen, J. Vorstman, E. Zackai, B. Emanuel, Joris Vermeesch, B. Morrow, P. Scambler and A. Bassett — because it takes a village to care for a patient with 22q11.2DS; the patients and their families for everything that they’ve taught us — because it always begins with a patient; her writer and poet son, MJ, for his inspirational title; and her husband Michael and son Daniel for their unwavering support of everything 22q.

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Authors and Affiliations

  1. Division of Human Genetics, Children’s Hospital of Philadelphia and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA

    Donna M. McDonald-McGinn

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  1. Donna M. McDonald-McGinn
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Correspondence to Donna M. McDonald-McGinn.

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McDonald-McGinn, D.M. 22q11.2 deletion — a tiny piece leading to a big picture. Nat Rev Dis Primers 6, 33 (2020). https://doi.org/10.1038/s41572-020-0169-x

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