Mosaicism in ASXL3-related syndrome: Description of five patients from three families

European Journal of Medical Genetics - Tập 63 - Trang 103925 - 2020
Schaida Schirwani1,2, Natalie Hauser3, Anna Platt3, Sumit Punj4, Katrina Prescott5, Natalie Canham6, D.D.D. study7, Sahar Mansour8, Meena Balasubramanian1,2
1Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK
2Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK
3Inova Health System, (or Inova Fairfax Hospital) Department of Paediatrics, Division of Medical Genomics, Falls Church, VA, USA
4GeneDx, Inc., Gaithersburg, MD, USA
5Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK
6Cheshire & Merseyside Regional Genetics Service, Liverpool Women's Hospital, Liverpool, UK
7DDD Study, Welcome Trust Sanger Institute, Hinxton, Cambridge, UK
8St George’s Hospital, London, UK

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