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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...

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Detalles Bibliográficos
Autores principales: Zhao, Xinyue, Bian, Chun, Liu, Keqiang, Xu, Wenshuai, Liu, Yaping, Tian, Xinlun, Bai, Jing, Xu, Kai-Feng, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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