Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.
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.
Palavras-chave
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