TY - JOUR T1 - Phenotype–genotype associations in primary ciliary dyskinesia: where do we stand? JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00392-2021 VL - 58 IS - 2 SP - 2100392 AU - Myrofora Goutaki AU - Eva S.L. Pedersen Y1 - 2021/08/01 UR - http://erj.ersjournals.com/content/58/2/2100392.abstract N2 - The study by Shoemark et al. [1], published in this issue of the European Respiratory Journal, is the first large-scale multinational study investigating genotype–phenotype correlations in primary ciliary dyskinesia (PCD), a genetically heterogeneous rare disease. The study confirmed genotype–phenotype relationships reported by previous smaller studies and identified new relationships, bringing the importance of defining distinct PCD phenotypes into the spotlight.Defining distinct PCD clinical phenotypes and their associations to genotypes in large collaborative clinical and research networks could have important implications for clinical management and subsequently patients’ quality of life https://bit.ly/2ZQItzRBoth authors participate in the BEAT-PCD clinical research collaboration, supported by the European Respiratory Society; M. Goutaki is one of the chairs. The views expressed in this editorial do not reflect official views of this collaboration but opinions of the authors. ER -