Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Sara Cuvertino,Verity Hartill,Alice Colyer,Terence Garner,Nisha Nair,Lihadh Al-Gazali,Natalie Canham,Victor Faundes,Frances Flinter,Jozef Hertecant,Muriel Holder-Espinasse,Brian Jackson,Sally Ann Lynch,Fatima Nadat,Vagheesh M. Narasimhan,Michelle Peckham,Robert Sellers,Marco Seri,Francesca Montanari,Laura Southgate,Gabriella Maria Squeo,Richard Trembath,David van Heel,Santina Venuto,Daniel Weisberg,Karen Stals,Sian Ellard,Anne Barton,Susan J. Kimber,Eamonn Sheridan,Giuseppe Merla,Adam Stevens,Colin A. Johnson,Siddharth Banka Genetics in Medicine（2020）
摘要
n amendment to this paper has been published and can be accessed via a link at the top of the paper.
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关键词
multiple congenital anomaly, Kabuki syndrome, KMT2D, histone 3 lysine 4 methyltransferase, intrinsically disordered region
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