Article
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.
Annals of the American Thoracic Society - 1 Aug 2016
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
Abstract excerpt
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 genes, have inherent limitations. OBJECTIVES: To define a statistically valid combination of systematically defined...
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