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

作者信息

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

出版信息

Am J Hum Genet. 2017 Apr 6;100(4):689. doi: 10.1016/j.ajhg.2017.03.003.

DOI:10.1016/j.ajhg.2017.03.003
PMID:28388435
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5384094/
Abstract
摘要

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