Article info
PDFGenotype-phenotype correlations
Original Article
P4HB recurrent missense mutation causing Cole-Carpenter syndrome
- 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
Citation
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.
Online issue publication
March 16, 2018
Article Versions
- Previous version (22 February 2018).
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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.