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Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.
Poplawska, Karolina; Griffiths, Anne; Temme, Renee; Adamko, Darryl J; Nykamp, Keith; Shapiro, Adam J.
Afiliação
  • Poplawska K; Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Quebec, Canada.
  • Griffiths A; Department of Pediatrics, Children's Minnesota, Minneapolis, MN.
  • Temme R; Department of Genetics, Children's Minnesota, Minneapolis, MN.
  • Adamko DJ; Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
  • Nykamp K; Invitae, San Francisco, CA.
  • Shapiro AJ; Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Quebec, Canada. Electronic address: adam.shapiro@muhc.mcgill.ca.
J Pediatr ; 261: 113362, 2023 10.
Article em En | MEDLINE | ID: mdl-36841509
We report 4 cases of primary ciliary dyskinesia in unrelated indigenous North American children caused by identical, homozygous, likely pathogenic deletions in the DNAL1 gene. These shared DNAL1 deletions among dispersed indigenous populations suggest that primary ciliary dyskinesia accounts for more lung disease with bronchiectasis than previously recognized in indigenous North Americans.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Bronquiectasia / Transtornos da Motilidade Ciliar Limite: Child / Humans País/Região como assunto: America do norte Idioma: En Revista: J Pediatr Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Bronquiectasia / Transtornos da Motilidade Ciliar Limite: Child / Humans País/Região como assunto: America do norte Idioma: En Revista: J Pediatr Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá