Genes take the lead: genetic testing becomes the gold standard for diagnosing primary ciliary dyskinesia
- PMID: 39667783
- DOI: 10.1183/13993003.01888-2024
Genes take the lead: genetic testing becomes the gold standard for diagnosing primary ciliary dyskinesia
Conflict of interest statement
Conflict of interest: A.J. Shapiro is an advisory board member for ReCode Therapeutics, Parion Sciences, PCDResearch.org, and the PCD Foundation, receives salary support from the PCD Foundation and has grant support from the National Institutes of Health and the Chest Foundation. C.S. Thornton has grant support from the Canadian Institutes of Health Research, Cystic Fibrosis Canada, the Cystic Fibrosis Foundation, the CHEST Foundation, the Canadian Federation for Innovation, Insmed, Trudell Medical and Baxter.
Comment on
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Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.Eur Respir J. 2024 Dec 12;64(6):2400790. doi: 10.1183/13993003.00790-2024. Print 2024 Dec. Eur Respir J. 2024. PMID: 39362668 Free PMC article.
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