TY - JOUR T1 - Expanding what we know about rare genetic diseases JO - European Journal of Human Genetics UR - http://dx.doi.org/10.1038/s41431-023-01453-2 PY - 2023/09/27 AU - McNeill A ED - DO - DOI: 10.1038/s41431-023-01453-2 PB - Springer Science and Business Media LLC VL - 31 IS - 10 SP - 1091 EP - 1092 Y2 - 2024/09/19 ER -