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Article

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

Archives of disease in childhood - 1 Feb 2022

Dai Dan, Mei Mei, Hu Liyuan, Cao Yun, Wang Xiaochuan, Wang Libo, Lu Yulan, Yang Lin, Dong Xinran, Wang Huijun, Wu Bingbing, Qian Liling

Abstract excerpt

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 genetic aetiology. A total of 140 positive cases were divided into subgroups based on recruitment age and the primary...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34134972
DOI: 10.1136/archdischild-2021-322058
PMCID: PMC8785068

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