Novel Compound Heterozygous RSPH4A Variants in a Chinese Family with Primary Ciliary Dyskinesia: A Case Report and Literature Review
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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 analyzed the clinical and genetic data of an index case suspected of having PCD based on her relevant test results.
