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.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
authors.forename: Hauw
authors.initials: H
authors.lastname: Lie
authors.affiliation: Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
authors.forename: Maimoona A
authors.initials: MA
authors.lastname: Zariwala
authors.affiliation: Department of Genetics, Washington University School of Medicine, St. Louis, MO.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Helms
authors.affiliation: Department of Genetics, Washington University School of Medicine, St. Louis, MO.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Bowcock
authors.affiliation: Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
authors.forename: John L
authors.initials: JL
authors.lastname: Carson
authors.affiliation: Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
authors.forename: David E
authors.initials: DE
authors.lastname: Brown
authors.affiliation: Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
authors.forename: Milan J
authors.initials: MJ
authors.lastname: Hazucha
authors.affiliation: Department of Otolaryngology, Washington University School of Medicine, St. Louis, MO.
authors.forename: James
authors.initials: J
authors.lastname: Forsen
authors.affiliation: Department of Otolaryngology, Washington University School of Medicine, St. Louis, MO.
authors.forename: David
authors.initials: D
authors.lastname: Molter
authors.affiliation: Department of Medicine, University of North Carolina, Chapel Hill, NC.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Knowles
authors.affiliation: Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
authors.forename: Margaret W
authors.initials: MW
authors.lastname: Leigh
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, MO. Electronic address: ferkol_t@kids.wustl.edu.
authors.forename: Thomas W
authors.initials: TW
authors.lastname: Ferkol
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002835:Christianity; D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000453:epidemiology* / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009079:Mucociliary Clearance / Q000235:genetics; D010375:Pedigree; D055815:Young Adult