The Expanding Genetic Diagnostic Approaches for Patients with Primary Ciliary Dyskinesia Beyond the Exome
Primary ciliary dyskinesia (PCD) is a rare monogenic disorder primarily associated with structural and functional abnormalities of motile cilia. It is typically inherited in an autosomal recessive pattern. The disease affects multiple organs, and the variability in clinical phenotypes, along with ge...
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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Chinês |
| Publicado: |
Editorial Office of Journal of Rare Diseases
2024-07-01
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| Colección: | 罕见病研究 |
| Materias: | |
| Acceso en línea: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.03.015 |
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