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 mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome.
Feng M et al.
Genes & Diseases, 2023
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