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Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Rationale: Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis of cilia, nasal nitric oxide measurements, and molecular testing for mutations in PCD gene...

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Bibliografiske detaljer
Udgivet i:Ann Am Thorac Soc
Main Authors: Leigh, Margaret W., Ferkol, Thomas W., Davis, Stephanie D., Lee, Hye-Seung, Rosenfeld, Margaret, Dell, Sharon D., Sagel, Scott D., Milla, Carlos, Olivier, Kenneth N., Sullivan, Kelli M., Zariwala, Maimoona A., Pittman, Jessica E., Shapiro, Adam J., Carson, Johnny L., Krischer, Jeffrey, Hazucha, Milan J., Knowles, Michael R.
Format: Artigo
Sprog:Inglês
Udgivet: American Thoracic Society 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5021075/
https://ncbi.nlm.nih.gov/pubmed/27070726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1513/AnnalsATS.201511-748OC
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