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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2017 Apr 6;100(4):689. doi: 10.1016/j.ajhg.2017.03.003

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, William J Craigen, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly AF Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz , Bertrand Isidor ∗∗
PMCID: PMC5384094  PMID: 28388435

(The American Journal of Human Genetics 100, 352–363; February 2, 2017)

In the originally published version of this article, William J. Craigen was mistakenly omitted from the author list. His name appears correctly here and in the online article. The authors apologize for the error.

Contributor Information

Paweł Stankiewicz, Email: pawels@bcm.edu.

Bertrand Isidor, Email: bertrand.isidor@chu-nantes.fr.


Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

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