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. |
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| 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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| ISSN: | 2324-9269 |
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| DOI: | 10.1002/mgg3.1072 |
