Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Fleming A, Galey M, Briggs L, Edwards M, Hogg C, John S, Wilkinson S, Quinn E, Rai R, Burgoyne T, Rogers A, Patel MP, Griffin P, Muller S, Carr SB, Loebinger MR, Lucas JS, Shah A, Jose R, Mitchison HM, Shoemark A, Miller DE, Morris-Rosendahl DJ.
Fleming A, et al. Among authors: shah a.
Eur J Hum Genet. 2024 Sep;32(9):1074-1085. doi: 10.1038/s41431-024-01599-7. Epub 2024 Apr 11.
Eur J Hum Genet. 2024.
PMID: 38605126
Free PMC article.