Associated Papers
Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report.
Xu W et al.
Frontiers in Pediatrics, 2025
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families.
Wang L et al.
Frontiers in Genetics, 2022
35812741 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_2
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
Casey JP et al.
European Journal of Human Genetics : Ejhg, 2015
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