Ontology highlight
ABSTRACT:
SUBMITTER: Guichard C
PROVIDER: S-EPMC1275621 | biostudies-literature | 2001 Apr
REPOSITORIES: biostudies-literature
Guichard C C Harricane M C MC Lafitte J J JJ Godard P P Zaegel M M Tack V V Lalau G G Bouvagnet P P
American journal of human genetics 20010223 4
Kartagener syndrome (KS) is a trilogy of symptoms (nasal polyps, bronchiectasis, and situs inversus totalis) that is associated with ultrastructural anomalies of cilia of epithelial cells covering the upper and lower respiratory tracts and spermatozoa flagellae. The axonemal dynein intermediate-chain gene 1 (DNAI1), which has been demonstrated to be responsible for a case of primary ciliary dyskinesia (PCD) without situs inversus, was screened for mutation in a series of 34 patients with KS. We ...[more]