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Original Article
P4HB recurrent missense mutation causing Cole-Carpenter syndrome

Authors

  1. Correspondence to Dr Meena Balasubramanian, Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield S10 2TH, UK; meena.balasubramanian{at}sch.nhs.uk
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Citation

Balasubramanian M, Padidela R, Pollitt RC, et al
P4HB recurrent missense mutation causing Cole-Carpenter syndrome

Publication history

  • Received June 29, 2017
  • Revised November 7, 2017
  • Accepted November 15, 2017
  • First published December 20, 2017.

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