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OALib Journal期刊
ISSN: 2333-9721
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
DOI: 10.1016/j.ajhg.2016.12.004
Alexander Hoischen, Anna C. Need, Barbara Burton, Christine M. Shuss, Constance T.R.M. Stumpel, David B. Goldstein, Fanny Kortüm, Heather M. McLaughlin, Jane S. Bellet, Karin Oberndorff, Katherine Kim, Kelly Schoch, Loren D.M. Pena, Magdalena Walkiewicz, Maja Hempel, Malik Alawi, Martha Ann Keels, Maysantoine El-Dairi, Megan Butler, Megan Cho, Melanie J. Bonner, Michael S. Freemark, Mitja I. Kurki, Nicholas Stong, Olli Pietilainen, Outi Kuismin, Palotie Aarno, Peter G. Kranz, Rene Santer, Satu Korpi-Heikkil？, Scott E. Hickey, Slavé Petrovski, Sylvia Klinkenberg, Undiagnosed Diseases Network
Abstract:
(The American Journal of Human Genetics 99, 991–999; October 6, 2016 Full-Text
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