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Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Primary ciliary dyskinesia in Amish communities.
Journal of Pediatrics 2010 June
Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity.
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