Primary ciliary dyskinesia associated wit a novel microtubule defect in a child with down's syndrome
We present a child with Down's 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 "...
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| Veröffentlicht in: | Chest 2000-04, Vol.117 (4), p.1207 |
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| container_issue | 4 |
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| container_title | Chest |
| container_volume | 117 |
| creator | Kovesi, Tom Sinclair, Brian MacCormick, Johnna Matzinger, Mary Ann Carpenter, Blair |
| description | We present a child with Down's 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 "U-shaped" rather than "O-shaped." 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 Down's syndrome. |
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The defect caused the A subunits to be "U-shaped" rather than "O-shaped." A nuclear nasal mucociliary transport study confirmed that this defect was associated with abnormal mucociliary transport. 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| ispartof | Chest, 2000-04, Vol.117 (4), p.1207 |
| issn | 0012-3692 1931-3543 |
| language | eng |
| recordid | cdi_proquest_journals_200470369 |
| source | Alma/SFX Local Collection |
| title | Primary ciliary dyskinesia associated wit a novel microtubule defect in a child with down's syndrome |
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