Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau; Jaeseung C. Kim; James T. Lu; Jeremy A. Schwartzentruber; Omar A. Abdul-Rahman; Silke Schlaubitz; David M. Murdock; Ming-Ming Jiang; Edward J. Lammer; Gregory M. Enns; William J. Rhead; Jon Rowland; Stephen P. Robertson; Valérie Cormier-Daire; Matthew N. Bainbridge; Xiang-Jiao Yang; Marie-Claude Gingras; Richard A. Gibbs; David S. Rosenblatt; Jacek Majewski; Brendan H. Lee

作者Philippe M. Campeau; Jaeseung C. Kim; James T. Lu; Jeremy A. Schwartzentruber; Omar A. Abdul-Rahman; Silke Schlaubitz; David M. Murdock; Ming-Ming Jiang; Edward J. Lammer; Gregory M. Enns; William J. Rhead; Jon Rowland; Stephen P. Robertson; Valérie Cormier-Daire; Matthew N. Bainbridge; Xiang-Jiao Yang; Marie-Claude Gingras; Richard A. Gibbs; David S. Rosenblatt; Jacek Majewski; Brendan H. Lee
卷第90卷
期第2期
印刷ISSN0002-9297
电子ISSN1537-6605
文件大小1129.46KB
发表时间2012
DOI10.1016/j.ajhg.2011.11.023
页码282-289

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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome