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Novel compound heterozygous OBSCN variants in Chinese children with congenital pulmonary airway malformation

Abstract Background Congenital pulmonary airway malformation (CPAM) belongs to rare lung abnormalities which may result in poor lung development outcomes. However, the etiology of CPAM has not been well described. Methods In this study, whole-exome sequencing (WES) technology was used to sequence 9...

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Главные авторы: Jiali Xu, Siyu Ma, Zhaocong Yang, Yang Xu, Jirong Qi, Min Da, Xuming Mo
Формат: Artigo
Язык:Inglês
Опубликовано: BMC 2025-03-01
Серии:Italian Journal of Pediatrics
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Online-ссылка:https://doi.org/10.1186/s13052-025-01942-8
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