@article{article, title = {{CRTAPmutation in a patient with Cole-Carpenter syndrome}}, publisher = {{Wiley}}, url = {{}}, year = {{2015}}, month = {{1}}, author = {{Balasubramanian M and Pollitt RC and Chandler KE and Mughal MZ and Parker MJ and Dalton A and Arundel P and Offiah AC and Bishop NJ}}, doi = {{10.1002/ajmg.a.36916}}, volume = {{167}}, journal = {{American Journal of Medical Genetics Part A}}, issue = {{3}}, pages = {{587-591}}, note = {{Accessed on 2025/04/12}}}