Combined Approaches Including Long-Read Sequencing Address the Diagnostic Challenge of HYDIN in Primary Ciliary Dyskinesia

Andrew Fleming,Miranda Galey, Lizi Briggs,Matthew Edwards,Claire Hogg,Shibu John,Sam Wilkinson,Ellie Quinn,Ranjit Rai,Tom Burgoyne, Andy Rogers,Mitali P. Patel,Paul Griffin,Steven Muller,Siobhan B. Carr,Michael R. Loebinger,Jane S. Lucas,Anand Shah,Ricardo Jose,Hannah M. Mitchison,Amelia Shoemark,Danny E. Miller,Deborah J. Morris-Rosendahl

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Primary Ciliary Dyskinesia
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