@article{d8ce9a3b1cea404883fa27970d36b2a2,
title = "Primary Ciliary Dyskinesia in Amish Communities",
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.",
author = "Hauw Lie and Zariwala, {Maimoona A.} and Cynthia Helms and Bowcock, {Anne M.} and Carson, {John L.} and Brown, {David E.} and Hazucha, {Milan J.} and James Forsen and David Molter and Knowles, {Michael R.} and Leigh, {Margaret W.} and Ferkol, {Thomas W.}",
note = "Funding Information: Supported by National Institutes of Health awards RR019480 (M.K.), HL071798 (M.K.), and HL079024 (T.F.), and the Children's Discovery Institute (T.F.). The authors declare no conflicts of interest. ",
year = "2010",
month = jun,
doi = "10.1016/j.jpeds.2010.01.054",
language = "English",
volume = "156",
pages = "1023--1025",
journal = "Journal of Pediatrics",
issn = "0022-3476",
number = "6",
}