@article{article, title = {{Good genotype-phenotype relationships in rare disease are hard to find}}, publisher = {{Springer Science and Business Media LLC}}, url = {{}}, year = {{2022}}, month = {{3}}, author = {{McNeill A}}, doi = {{10.1038/s41431-022-01062-5}}, volume = {{30}}, journal = {{European Journal of Human Genetics}}, issue = {{3}}, pages = {{251-251}}, note = {{Accessed on 2024/12/22}}}