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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A; Banka, Siddharth.
  • Cuvertino S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.
  • Hartill V; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.
  • Colyer A; Leeds Institute of Medical Research, Faculty of Medicine and Health, The University of Leeds, Leeds, UK.
  • Garner T; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals Trust, Leeds, UK.
  • Nair N; Astbury Centre for Structural Molecular Biology, Faculty of Biological Sciences, The University of Leeds, Leeds, UK.
  • Al-Gazali L; Division of Developmental Biology & Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.
  • Canham N; Centre of Genetics & Genomics Versus Arthritis, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, UK.
  • Faundes V; Department of Paediatrics, College of Medicine & Health Sciences, United Arab University, Al-Ain, UAE.
  • Flinter F; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • Hertecant J; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
  • Holder-Espinasse M; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.
  • Jackson B; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile.
  • Lynch SA; Department of Clinical Genetics, Guy's & St Thomas NHS Foundation Trust, London, UK.
  • Nadat F; Department of Paediatrics, Tawam Hospital, Al-Ain, UAE.
  • Narasimhan VM; Department of Clinical Genetics, Guy's & St Thomas NHS Foundation Trust, London, UK.
  • Peckham M; Astbury Centre for Structural Molecular Biology, Faculty of Biological Sciences, The University of Leeds, Leeds, UK.
  • Sellers R; Temple street Children's University Hospital, Dublin, Ireland.
  • Seri M; Astbury Centre for Structural Molecular Biology, Faculty of Biological Sciences, The University of Leeds, Leeds, UK.
  • Montanari F; Wellcome Trust Sanger Institute, Cambridge, UK.
  • Southgate L; Astbury Centre for Structural Molecular Biology, Faculty of Biological Sciences, The University of Leeds, Leeds, UK.
  • Squeo GM; Division of Developmental Biology & Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.
  • Trembath R; Medical Genetics Unit, St. Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • van Heel D; Medical Genetics Unit, St. Orsola-Malpighi, University of Bologna, Bologna, Italy.
  • Venuto S; Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.
  • Weisberg D; Department of Medical & Molecular Genetics, King's College London, London, UK.
  • Stals K; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Ellard S; Department of Medical & Molecular Genetics, King's College London, London, UK.
  • Barton A; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Kimber SJ; Clinical Psychology Department, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, Manchester, UK.
  • Sheridan E; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Merla G; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Stevens A; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Banka S; Centre of Genetics & Genomics Versus Arthritis, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, UK.
Genet Med ; 22(5): 980, 2020 May.
Article en En | MEDLINE | ID: mdl-32203228
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2020 Tipo del documento: Article