@article{article, title = {{Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes}},
publisher = {{Elsevier BV}},
url = {{http://eprints.whiterose.ac.uk/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 = {{The American Journal of Human Genetics}},
issue = {{3}},
pages = {{422-438}},
note = {{Accessed on 2025/07/05}}}