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

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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Bibliographic Details
Main Authors: Jiali Xu, Siyu Ma, Zhaocong Yang, Yang Xu, Jirong Qi, Min Da, Xuming Mo
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Italian Journal of Pediatrics
Subjects:
CPAM
Compound heterozygous
OBSCN
Genetic mutations
Online Access:https://doi.org/10.1186/s13052-025-01942-8
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https://doi.org/10.1186/s13052-025-01942-8

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