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Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252271/ https://www.ncbi.nlm.nih.gov/pubmed/34210339 http://dx.doi.org/10.1186/s13023-021-01840-2 |