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

Dan DaiMei MeiLiyuan HuYun CaoXiaochuan WangLibo WangYulan LuLin YangXinran DongHuijun WangBingbing WuLiling Qian

Published in: Archives of disease in childhood (2021)

Our findings demonstrate that exome sequencing is a valuable diagnostic tool for monogenic diseases in children with a predominant respiratory phenotype, and the genetic spectrum varies with age. Taken together, genetic diagnoses provide invaluable clinical and prognostic information that may also facilitate the development of precision medicine for paediatric patients.

Keyphrases

end stage renal disease
intensive care unit
emergency department
copy number
chronic kidney disease
ejection fraction
genome wide
young adults
risk factors
prognostic factors
single cell
patient reported