Article
Phenotypic features of ciliary dyskinesia among patients with congenital cardiovascular malformations.
Pediatric pulmonology - 1 Oct 2020
Sherman Forrest, Wodrich Mitchel, Zampi Jeffrey D, Lee Julie, McCaffery Harlan, Saba Thomas G
Abstract excerpt
BACKGROUND: Cilia are cell membrane-bound organelles responsible for airway mucus clearance, establishment of left-right organ asymmetry, cardiogenesis, and many other functions in utero. Phenotypic features suggestive of respiratory ciliary dyskinesia among patients with heterotaxy syndrome, defined as complex cardiovascular malformations (CVM) and situs ambiguus (SA), has not been adequately explored....
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