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Primary Ciliary Dyskinesia Associated With a Novel Microtubule Defect in a Child With Downâs Syndrome
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Primary Ciliary Dyskinesia Associated With a Novel Microtubule Defect in a Child With Downâs Syndrome
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Journal Article
Primary Ciliary Dyskinesia Associated With a Novel Microtubule Defect in a Child With Downâs Syndrome
2000
Overview
We present a child with Downâs syndrome, bilateral lower lobe
bronchiectasis, sinusitis, and severe ear disease who was found to have
a novel ciliary defect, with a frequent, partial absence of the walls
of the A subunits of some peripheral doublets. The defect caused the A
subunits to be âU-shapedâ rather than âO-shaped.â A nuclear
nasal mucociliary transport study confirmed that this defect was
associated with abnormal mucociliary transport. The ciliary defect was
not observed in a biopsy performed in a second patient who had Downâs
syndrome.
Publisher
American College of Chest Physicians
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