@article{article, title = {{A cryptic CBFB deletion–inversion expands the mutational spectrum of variants associated with cleidocranial dysplasia}}, publisher = {{Wiley}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/223087 }}, year = {{2025}}, month = {{2}}, author = {{Pagnamenta AT and Hashim M and Kennedy J and Lawton B and Offiah AC and Taylor JC and Smithson SF}}, doi = {{10.1111/cge.14709}}, volume = {{108}}, journal = {{Clinical Genetics}}, issue = {{1}}, pages = {{86-91}}, note = {{Accessed on 2025/11/11}}}