Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype

OBJECTIVE: This study aimed to investigate the prevalence and clinical characteristics of monogenic disease in paediatric patients with a predominant respiratory phenotype. METHODS: Exome sequencing was performed in a cohort of 971 children with a predominant respiratory phenotype and suspected gene...

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Detalles Bibliográficos
Autores principales: Dai, Dan, Mei, Mei, Hu, Liyuan, Cao, Yun, Wang, Xiaochuan, Wang, Libo, Lu, Yulan, Yang, Lin, Dong, Xinran, Wang, Huijun, Wu, Bingbing, Qian, Liling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785068/
https://www.ncbi.nlm.nih.gov/pubmed/34134972
http://dx.doi.org/10.1136/archdischild-2021-322058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785068/
https://www.ncbi.nlm.nih.gov/pubmed/34134972
http://dx.doi.org/10.1136/archdischild-2021-322058

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