@article{article, title  = {{Expanding what we know about rare genetic diseases}},

 publisher = {{Springer Science and Business Media LLC}},

 url = {{http://dx.doi.org/10.1038/s41431-023-01453-2 }},

 year = {{2023}},

 month = {{9}},

 author = {{McNeill A}},

 doi = {{10.1038/s41431-023-01453-2}},

 volume = {{31}},

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

 issue = {{10}},

 pages = {{1091-1092}},

 note = {{Accessed on 2024/12/22}}}