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Fantastic PCD Phenotypes and Where To Find Them A ...
Fantastic PCD Phenotypes and Where To Find Them A Comparison of Three PCD Genes and Their Phenotypes
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Primary ciliary dyskinesia (PCD) is characterized by symptoms such as chronic wet cough, nasal congestion, neonatal respiratory distress, and laterality defects. Adults with PCD often develop bronchiectasis. The study compared the genes DNAAF2, RSPH9, and ODAD3 associated with PCD, focusing on their genetic and phenotypic similarities. Annotations of biomedical literature using the Hypothesis tool aided in extracting genotype-phenotype data, aiming to improve patient diagnoses and care. By analyzing literature on these genes, the study highlighted the importance of understanding patient phenotypes to enhance diagnostic accuracy and patient management. The comparison revealed varying clinical features and frequencies of certain phenotypes across patients with PCD-causing variants in these genes. Annotating data can contribute to developing standardized phenotypic checklists for researchers and medical professionals evaluating PCD patients, potentially aiding in identifying overlapping symptoms such as scoliosis. Through detailed analysis and comparison, the study emphasizes the significance of utilizing web-based annotation tools for comprehensive genotype-phenotype analysis in PCD research.
Keywords
Primary ciliary dyskinesia
PCD
Chronic wet cough
Nasal congestion
Bronchiectasis
DNAAF2 gene
RSPH9 gene
ODAD3 gene
Genotype-phenotype data
Web-based annotation tools
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