Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, inherited disorder of the motile cilia that exhibits genetic and clinical heterogeneity among different populations. PCD diagnosis remains challenging owing to the heterogeneity of associated clinical features and lack of a gold standard diagno...

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Detalles Bibliográficos
Autores principales: Li, Ying, Fu, Wenlong, Geng, Gang, Dai, Jihong, Fu, Zhou, Tian, Daiyin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9264530/
https://www.ncbi.nlm.nih.gov/pubmed/35804324
http://dx.doi.org/10.1186/s12887-022-03469-x

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