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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

  • M. Balasubramanian*
  • , J. Hurst
  • , S. Brown
  • , N. J. Bishop
  • , P. Arundel
  • , C. DeVile
  • , R. C. Pollitt
  • , L. Crooks
  • , D. Longman
  • , J. F. Caceres
  • , F. Shackley
  • , S. Connolly
  • , J. H. Payne
  • , A. C. Offiah
  • , D. Hughes
  • , M. J. Parker
  • , W. Hide
  • , T. M. Skerry
    • *Corresponding author for this work
    • Sheffield Children's NHS Foundation Trust
    • Highly Specialised Service for Severe
    • Wellcome Sanger Institute
    • University College London
    • University of Sheffield
    • Sheffield Hallam University
    • University of Edinburgh
    • Sheffield Teaching Hospitals NHS Foundation Trust

    Research output: Contribution to journal › Article › peer-review

    54 Citations (SciVal)

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