Article
Genotypes and associations with symptoms in primary ciliary dyskinesia
2023-11-28
Abstract excerpt
<h4>Background</h4> Knowledge about genotype-phenotype associations is crucial for understanding the clinical variability of primary ciliary dyskinesia (PCD). We studied how feasible it is to collect information about causative genes directly from people with PCD through questionnaires, and investigated associations between clinical characteristics, symptoms, and genotype. <h4>Methods</h4> We used data from the an...
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Identifiers and source
- Literature Corpus work
- bb900025-ad8c-54ff-af5e-39b6f61d924f
- DOI
- 10.1101/2023.11.28.23299010
