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Original research
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

Authors

  • Marilena Elpidorou Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK PubMed articlesGoogle scholar articles
  • Sunayna Best Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UKYorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, West Yorkshire, UK PubMed articlesGoogle scholar articles
  • James A Poulter Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK PubMed articlesGoogle scholar articles
  • Verity Hartill Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UKYorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, West Yorkshire, UK PubMed articlesGoogle scholar articles
  • Emma Hobson Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, West Yorkshire, UK PubMed articlesGoogle scholar articles
  • Eamonn Sheridan Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UKYorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, West Yorkshire, UK PubMed articlesGoogle scholar articles
  • Colin A Johnson Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Colin A Johnson, Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds LS2 9JT, West Yorkshire, UK; c.johnson{at}leeds.ac.uk
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Citation

Elpidorou M, Best S, Poulter JA, et al
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

Publication history

  • Received January 30, 2020
  • Revised May 6, 2020
  • Accepted May 9, 2020
  • First published June 22, 2020.

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