@article{article, title  = {{Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1}},

 publisher = {{BMJ}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/194498 }},

 year = {{2022}},

 month = {{11}},

 author = {{Pagnamenta AT and Yu J and Evans J and Twiss P and Offiah AC and Wafik M and Mehta SG and Javaid MK and Smithson SF and Taylor JC}},

 doi = {{10.1136/jmg-2022-108753}},

 volume = {{60}},

 journal = {{Journal of Medical Genetics}},

 issue = {{5}},

 pages = {{505-510}},

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