@article{article, title = {{P4HB recurrent missense mutation causing Cole-Carpenter syndrome}}, publisher = {{BMJ}}, url = {{https://eprints.whiterose.ac.uk/125577/ }}, year = {{2018}}, month = {{2}}, author = {{Balasubramanian M and Padidela R and Pollitt RC and Bishop NJ and Mughal MZ and Offiah AC and Wagner BE and McCaughey J and Stephens DJ}}, doi = {{10.1136/jmedgenet-2017-104899}}, volume = {{55}}, journal = {{Journal of Medical Genetics}}, issue = {{3}}, pages = {{158-165}}, note = {{Accessed on 2025/04/12}}}