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

 publisher = {{Wiley}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/140464 }},

 year = {{2019}},

 month = {{1}},

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

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

 volume = {{179}},

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

 issue = {{1}},

 pages = {{43-49}},

 note = {{Accessed on 2025/11/11}}}