Article
Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2022
Nielsen Kim G, Holgersen Mathias G, Crowley Suzanne, Marthin June K
Abstract excerpt
Primary ciliary dyskinesia (PCD) can be defined as a multiorgan ciliopathy with a dominant element of chronic airway disease affecting the nose, sinuses, middle ear, and in particular, the lower airways. Although most patients with PCD are diagnosed during preschool years, it is obvious that the chronic lung disease starts its course already from birth. The many faces of the clinical picture change, as does lung...
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