Primary Ciliary Dyskinesia in Amish Communities

Hauw Lie, Maimoona A. Zariwala, Cynthia Helms, Anne M. Bowcock, John L. Carson, David E. Brown, Milan J. Hazucha, James Forsen, David Molter, Michael R. Knowles, Margaret W. Leigh, Thomas W. Ferkol

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

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.

Original languageEnglish
Pages (from-to)1023-1025
Number of pages3
JournalJournal of Pediatrics
Volume156
Issue number6
DOIs
StatePublished - Jun 2010

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