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. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi , Loren DM Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss; Undiagnosed Diseases Network, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance TRM Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm
PMCID: PMC5223056  PMID: 28061364

(The American Journal of Human Genetics 99, 991–999; October 6, 2016)

In the originally published version of this article, Table 1 unfortunately contained two errors: c.2472delC (p.Ser825Valfs18) should have been c.2472delC (p.Ser825Valfs16) (as correctly notated in the main text), and the title should have mentioned six individuals instead of four. The errors have been corrected online, and the authors apologize for any confusion.


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