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Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
Schirwani, Schaida; Hauser, Natalie; Platt, Anna; Punj, Sumit; Prescott, Katrina; Canham, Natalie; Study, D D D; Mansour, Sahar; Balasubramanian, Meena.
Affiliation
  • Schirwani S; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK. Electronic address: schaida.schirwani@nhs.net.
  • Hauser N; Inova Health System, (or Inova Fairfax Hospital) Department of Paediatrics, Division of Medical Genomics, Falls Church, VA, USA.
  • Platt A; Inova Health System, (or Inova Fairfax Hospital) Department of Paediatrics, Division of Medical Genomics, Falls Church, VA, USA.
  • Punj S; GeneDx, Inc., Gaithersburg, MD, USA.
  • Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Canham N; Cheshire & Merseyside Regional Genetics Service, Liverpool Women's Hospital, Liverpool, UK.
  • Study DDD; DDD Study, Welcome Trust Sanger Institute, Hinxton, Cambridge, UK.
  • Mansour S; St George's Hospital, London, UK.
  • Balasubramanian M; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
Eur J Med Genet ; 63(6): 103925, 2020 Jun.
Article in En | MEDLINE | ID: mdl-32240826
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Full text: 1 Database: MEDLINE Main subject: Transcription Factors / Developmental Disabilities / Mosaicism Limits: Child / Child, preschool / Female / Humans / Male Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Transcription Factors / Developmental Disabilities / Mosaicism Limits: Child / Child, preschool / Female / Humans / Male Language: En Year: 2020 Type: Article