Extract
年代的研究hoemarket al. [1], published in this issue of theEuropean 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.
Abstract
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 lifehttps://bit.ly/2ZQItzR
Acknowledgements
Both 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.
Footnotes
Conflict of Interest: M. Goutaki has nothing to disclose. E.S.L. Pedersen has nothing to disclose.
Support statement: M. Goutaki and E.S.L. Pedersen receive funding from the Swiss National Science Foundation (PZ00P3_185923 and 320030B_192804/1). Funding information for this article has been deposited with theCrossref Funder Registry.
- 收到了February 8, 2021.
- AcceptedFebruary 19, 2021.
- Copyright ©The authors 2021. For reproduction rights and permissions contactpermissions{at}ersnet.org