ArticleFrontiers in molecular biosciences2026
Novel pathogenic variant in
Article in Frontiers in molecular biosciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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8 authors.
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Abstract
Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting approximately 1:15,000 to 1:30,000 individuals. It is characterized by upper and lower respiratory diseases, otitis media, congenital heart defects, situs inversus, infertility in males, and hydrocephalus. Whole-exome sequencing (WES) has become an important tool for identifying novel pathogenic variants associated with PCD. Methods: Trio-based WES was performed in two Turkish siblings with clinically suspected PCD born to healthy consanguineous parents. Candidate variants were validated by Sanger sequencing and functionally assessed using immunofluorescence (IF) analysis of respiratory cilia obtained by nasal brushing biopsy. Results: A novel homozygous frameshift pathogenic variant in Discussion: These findings expand the mutational spectrum of
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