Article
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
Human mutation - 1 Oct 2013
Daniels M Leigh Anne, Leigh Margaret W, Davis Stephanie D, Armstrong Michael C, Carson Johnny L, Hazucha Milan, Dell Sharon D, Eriksson Maria, Collins Francis S, Knowles Michael R, Zariwala Maimoona A
Abstract excerpt
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...
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