Article

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletion in primary ciliary dyskinesia

2026-05-19

Abstract excerpt

<title>Abstract</title> <p> Background Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting ~ 1:7,500 individuals characterised by recurrent chronic respiratory infections, bronchiectasis, laterality defects, and infertility. While at least 60 PCD-causing genes are reported, approximately 30% of patients remain without confirmed molecular diagnosis. PCD caused by biallelic <italic>HYDIN</itali...

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Literature Corpus work: 228ee7ee-e483-52ab-ae63-cbae5aa89c81
DOI: 10.21203/rs.3.rs-9545795/v1

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