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HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
Authors:Deepika D'Cunha Burkardt  Anna Zachariou  Chey Loveday  Clare L. Allen  David J. Amor  Anna Ardissone  Siddharth Banka  Alexia Bourgois  Christine Coubes  Cheryl Cytrynbaum  Laurence Faivre  Gerard Marion  Rachel Horton  Dieter Kotzot  Guillermo Lay‐Son  Melissa Lees  Karen Low  Ho‐Ming Luk  Paul Mark  Allyn McConkie‐Rosell  Marie McDonald  John Pappas  Christophe Phillipe  Deborah Shears  Brian Skotko  Fiona Stewart  Helen Stewart  I Karen. Temple  Frederic T. Mau‐Them  Ricardo A. Verdugo  Rosanna Weksberg  Yuri A. Zarate  John M. Graham  Katrina Tatton‐Brown
Affiliation:1. Center for Human Genetics,University Hospitals Rainbow Babies and Children, Department of genetics, Case Western Reserve University, Cleveland, Ohio;2. Institute of Cancer Research, London, UK;3. Lowerbank Dental Practice, Leyland, UK;4. Department of Paediatrics, The Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne, Parkville, Victoria, Australia;5. Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Lombardia, Italy;6. Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK;7. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK;8. CHU C?te de Nacre, Service de Génétique, Caen, France;9. H?pital Arnaud de Villeneuve Montpellier, Montpellier, France;10. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada;11. Genetics Center, H?pital d'Enfants, Dijon, France;12. Service de Génétique, Centre Hospitalier Universitaire de Caen Normandie, Caen, France;13. University Hospital Southampton NHS Foundation Trust, Southampton, UK;14. Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria;15. División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile;16. Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK;17. Clinical Genetics, St Michaels Hospital, University Hospitals Bristol, Bristol, UK;18. Department of Health, Clinical Genetic Service, Hong Kong, Hong Kong;19. Spectrum Health Division of Medical Genetics, Grand Rapids, Michigan;20. Division of Medical Genetics, Department of Pediatrics, Duke University Medical Genetics, Durham, North Carolina;21. Human Genetics Program, University School of Medicine, New York, New York, USA;22. UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, INSERM UMR1231 GAD, Dijon, France;23. Clinical Genetics, Churchill Hospital, Oxford, UK;24. Division of Medical Genetics and Genomics, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts;25. Medical Genetics, Belfast City Hospital, Belfast, UK;26. Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford, UK;27. Faculty of Medicine, Wessex Clinical Genetics Service, University Hospital Southampton, University of Southampton, Southampton, UK;28. UF D'innovation en Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, FHU TRANSLAD, Dijon, France;29. Programa de Genética Humans, ICBM, Santiago, Chile;30. Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas;31. Medical Genetics, Cedars‐Sinai Medical Center, Los Angeles, California;32.

https://orcid.org/0000-0001-8686-0973;33. South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK;34. St George's University of London, London, UK;35. Katrina Tatton‐Brown, South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.

Abstract:
Keywords:epigenetic regulator gene  HIST1H1E  intellectual disability  Rahman syndrome
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