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Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

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Title: Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Authors: Luperchio TR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Applegate CD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bodamer O; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard University, Cambridge, MA, USA., Bjornsson HT; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Landspitali University Hospital, Reykjavik, Iceland.
Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Feb; Vol. 8 (2), pp. e1072. Date of Electronic Publication: 2019 Dec 08.
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
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  Data: <searchLink fieldCode="AU" term="%22Luperchio+TR%22">Luperchio TR</searchLink>; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink>; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bodamer+O%22">Bodamer O</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard University, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bjornsson+HT%22">Bjornsson HT</searchLink>; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Landspitali University Hospital, Reykjavik, Iceland.
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  Data: <searchLink fieldCode="JN" term="%22101603758%22">Molecular genetics & genomic medicine</searchLink> [Mol Genet Genomic Med] 2020 Feb; Vol. 8 (2), pp. e1072. <i>Date of Electronic Publication: </i>2019 Dec 08.
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  Data: Case Reports; Letter; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101603758 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2324-9269 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223249269%22">23249269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomic Med <i>Subsets: </i>MEDLINE
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        Value: 10.1002/mgg3.1072
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      – Code: eng
        Text: English
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      – TitleFull: Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
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              Text: 2020 Feb
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              Y: 2020
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