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