Ontology highlight
ABSTRACT:
SUBMITTER: Daniels ML
PROVIDER: S-EPMC3906677 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Daniels M Leigh Anne ML Leigh Margaret W MW Davis Stephanie D SD Armstrong Michael C MC Carson Johnny L JL Hazucha Milan M Dell Sharon D SD Eriksson Maria M Collins Francis S FS Knowles Michael R MR Zariwala Maimoona A MA
Human mutation 20130806 10
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive, genetically heterogeneous disorder characterized by ciliary dysfunction resulting in chronic oto-sino-pulmonary disease, respiratory distress in term neonates, laterality (situs) defects, and bronchiectasis. Diagnosis has traditionally relied on ciliary ultrastructural abnormalities seen by electron microscopy. Mutations in radial spoke head proteins occur in PCD patients with central apparatus defects. Advances in genetic testing ...[more]