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Primary ciliary dyskinesia in Amish communities.
Lie, Hauw; Zariwala, Maimoona A; Helms, Cynthia; Bowcock, Anne M; Carson, John L; Brown, David E; Hazucha, Milan J; Forsen, James; Molter, David; Knowles, Michael R; Leigh, Margaret W; Ferkol, Thomas W.
Afiliação
  • Lie H; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Zariwala MA; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
  • Helms C; Department of Genetics, Washington University School of Medicine, St. Louis, MO.
  • Bowcock AM; Department of Genetics, Washington University School of Medicine, St. Louis, MO.
  • Carson JL; Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
  • Brown DE; Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
  • Hazucha MJ; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
  • Forsen J; Department of Otolaryngology, Washington University School of Medicine, St. Louis, MO.
  • Molter D; Department of Otolaryngology, Washington University School of Medicine, St. Louis, MO.
  • Knowles MR; Department of Medicine, University of North Carolina, Chapel Hill, NC.
  • Leigh MW; Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
  • Ferkol TW; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO. Electronic address: ferkol_t@kids.wustl.edu.
J Pediatr ; 156(6): 1023-1025, 2010 Jun.
Article em En | MEDLINE | ID: mdl-20350728
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Motilidade Ciliar Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Pediatr Ano de publicação: 2010 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Motilidade Ciliar Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Pediatr Ano de publicação: 2010 Tipo de documento: Article País de publicação: Estados Unidos