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

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

Abstract 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 standar...

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Bibliographic Details
Main Authors: Ying Li, Wenlong Fu, Gang Geng, Jihong Dai, Zhou Fu, Daiyin Tian
Format: Article
Language:English
Published: BMC 2022-07-01
Series:BMC Pediatrics
Subjects:
Primary ciliary dyskinesia
Phenotype
Gene
China
Online Access:https://doi.org/10.1186/s12887-022-03469-x

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