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

doi:10.1016/j.jpeds.2010.01.054

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 journal › Article › peer-review

13 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 language	English
Pages (from-to)	1023-1025
Number of pages	3
Journal	Journal of Pediatrics
Volume	156
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2010.01.054
State	Published - Jun 2010

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10.1016/j.jpeds.2010.01.054

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@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",

}

TY - JOUR

T1 - Primary Ciliary Dyskinesia in Amish Communities

AU - Lie, Hauw

AU - Zariwala, Maimoona A.

AU - Helms, Cynthia

AU - Bowcock, Anne M.

AU - Carson, John L.

AU - Brown, David E.

AU - Hazucha, Milan J.

AU - Forsen, James

AU - Molter, David

AU - Knowles, Michael R.

AU - Leigh, Margaret W.

AU - Ferkol, Thomas W.

N1 - 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.

PY - 2010/6

Y1 - 2010/6

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/77952288712

U2 - 10.1016/j.jpeds.2010.01.054

DO - 10.1016/j.jpeds.2010.01.054

M3 - Article

C2 - 20350728

AN - SCOPUS:77952288712

SN - 0022-3476

VL - 156

SP - 1023

EP - 1025

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 6

ER -

Primary Ciliary Dyskinesia in Amish Communities

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