Article info

PDF
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
View Full Text

Citation

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

Publication history

  • Received 29 June 2017
  • Revised 7 November 2017
  • Accepted 15 November 2017
  • Published in print 19 December 2017.
  • Published online 20 December 2017.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.