Article

Novel Compound Heterozygous RSPH4A Variants in a Chinese Family with Primary Ciliary Dyskinesia: A Case Report and Literature Review

2026-03-12

Abstract excerpt

<title>Abstract</title> <p>The Radius Spoke Head Protein 4 Homolog A (RSPH4A) gene is one of over 50 genes responsible for causing primary ciliary dyskinesia (PCD)(De Jesús-Rojas et al., 2023).Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder characterized by dysfunction of motile cilia, with or without detectable ultrastructural abnormalities(Chenling Shen et al., 2024).This study an...

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Literature Corpus work: 079d4ead-6076-5c9c-aea3-caab7420a68a
DOI: 10.21203/rs.3.rs-8990118/v1

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