Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA.
Daniels ML, et al. Among authors: knowles mr.
Hum Mutat. 2013 Oct;34(10):1352-6. doi: 10.1002/humu.22371. Epub 2013 Aug 6.
Hum Mutat. 2013.
PMID: 23798057
Free PMC article.
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. …
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive, genetically heterogeneous disorder characterized by ciliary dysfunction res …