TY - JOUR T1 - Good genotype-phenotype relationships in rare disease are hard to find JO - European Journal of Human Genetics PY - 2022/03/04 AU - McNeill A ED - DO - DOI: 10.1038/s41431-022-01062-5 PB - Springer Science and Business Media LLC VL - 30 IS - 3 SP - 251 EP - 251 Y2 - 2024/12/22 ER -