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

 publisher = {{BMJ}},

 url = {{http://dx.doi.org/10.1136/jmg-2022-108753 }},

 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}},

 journal = {{Journal of Medical Genetics}},

 note = {{Accessed on 2024/12/25}}}