@article{article, title  = {{P4HB recurrent missense mutation causing Cole-Carpenter syndrome}},

 publisher = {{BMJ Publishing Group}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/125577 https://doi.org/10.1136/jmedgenet-2017-104899 }},

 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 2025/11/04}}}