@article{article, title  = {{Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes}},

 publisher = {{Elsevier}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/142839 }},

 year = {{2019}},

 month = {{3}},

 author = {{Burrage LC and Reynolds JJ and Baratang NV and Phillips JB and Wegner J and McFarquhar A and Higgs MR and Christiansen AE and Lanza DG and Seavitt JR and Jain M et al}},

 doi = {{10.1016/j.ajhg.2019.01.007}},

 volume = {{104}},

 journal = {{American Journal of Human Genetics}},

 issue = {{3}},

 pages = {{422-438}},

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