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- W1989885740 abstract "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. 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." @default.
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- W1989885740 date "2010-06-01" @default.
- W1989885740 modified "2023-10-16" @default.
- W1989885740 title "Primary Ciliary Dyskinesia in Amish Communities" @default.
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- W1989885740 doi "https://doi.org/10.1016/j.jpeds.2010.01.054" @default.
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