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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
Authors:William Dufour  Salem Alawbathani  Anne-Sophie Jourdain  Maria Asif  Geneviève Baujat  Christian Becker  Birgit Budde  Lyndon Gallacher  Theodoros Georgomanolis  Jamal Ghoumid  Wolfgang Höhne  Stanislas Lyonnet  Iman Ali Ba-Saddik  Sylvie Manouvrier-Hanu  Susanne Motameny  Angelika A Noegel  Lynn Pais  Clémence Vanlerberghe  Muhammad Sajid Hussain
Affiliation:1. Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK;2. Department of Dermatology, University of Valle, Cali, Colombia;3. Department of Medical Sciences, Uppsala University, Uppsala, Sweden;4. PC Project, Salt Lake City, Utah, USA;5. Department of Dermatology, University of Utah, Salt Lake City, Utah, USA;1. Genomics England, London, UK;2. Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK;3. Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine University of Oxford, Oxford, UK;4. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK;5. Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust, Oxford, UK;6. Department of Clinical Genetics Liverpool Women’s NHS Foundation Trust, Liverpool, UK;7. Clinical Genetics Service Great Ormond Street Hospital, London, UK;8. Wessex Clinical Genetics Service University Hospital Southampton NHS Foundation Trust, Southampton, UK;9. Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK;10. West of Scotland Centre for Genomic Medicine Queen Elizabeth University Hospital, Glasgow, UK;11. South East Regional Genetics Service, Guy’s and St Thomas’ NHS Trust, London, UK;12. Genomics Unit, NHS England & NHS Improvement, London, UK;13. William Harvey Research Institute Queen Mary University of London, London, UK
Abstract:
Keywords:Ectodermal dysplasia  Limb malformation  WNT signaling  American College of Medical Genetics and Genomics  Association for Molecular Pathology  Exome Sequecing Project  genome aggregation database  not applicable  not determined
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