@article{article, title  = {{Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant}},

 url = {{http://eprints.whiterose.ac.uk/140464/ }},

 year = {{2018}},

 month = {{12}},

 author = {{Yates TM and Ng OH and Offiah AC and Willoughby J and Berg JN and Study DDD and Johnson DS}},

 doi = {{10.1002/ajmg.a.60678}},

 journal = {{American Journal of Medical Genetics, Part A}},

 note = {{Accessed on 2024/12/22}}}